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Wednesday, August 30, 2006

Primary pulmonary lymphangiectasia in infancy and childhood

Primary pulmonary lymphangiectasia in infancy and childhood

Eur Respir J 2004; 24:413-419Copyright ©ERS Journals Ltd 2004

P.M. Barker1, C.R. Esther, Jr1, L.A. Fordham2, S.J. Maygarden3 and W.K. Funkhouser3
Depts of 1 Paediatrics (Division of Paediatric Pulmonology), 2 Radiology, and 3 Pathology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
CORRESPONDENCE: P.M. Barker, Division of Paediatric Pulmonology, Dept of Paediatrics, 200 Mason Farm Road, CB 7220, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA. Fax: 1 9199666179. E-mail:

Keywords: Growth, pathology, radiology, spirometry

Received: February 4, 2004


Primary pulmonary lymphangiectasia (PPL) is a rare disorder of unknown aetiology characterised by dilatation of the pulmonary lymphatics. PPL is widely reported to have a poor prognosis in the neonatal period and little is known about the clinical features of patients who survive the newborn period.

The current authors report the outcome in nine patients diagnosed in infancy with PPL over a 15-yr period at a single university-based hospital clinic and followed for a median of 6 yrs.
Although all of the patients initially experienced respiratory distress, respiratory symptoms improved in most patients after infancy and were notably better by the age of 6 yrs. Many patients had poor weight gain in the first years of life, which eventually improved. Radiological scans showed progressive resolution of neonatal infiltrates, but were characterised by hyperinflation and increased interstitial markings in older children. Most patients had evidence of bronchitis and grew pathogenic organisms from quantitative bronchoalveolar lavage culture.

Pulmonary function tests showed predominantly obstructive disease that did not deteriorate over time.

In conclusion, these results suggest that primary pulmonary lymphangiectasia does not have as dismal a prognosis as previously described and symptoms and clinical findings improve after the first year of life.

Pulmonary lymphangiectasia is an abnormal dilatation ofthe lymphatics draining the interstitial and subpleural (SP) space of the lungs. It is a rare condition, first described by Virchow 1 in 1856, which can be a primary abnormality or acquired as a result of obstruction of the pulmonary lymphatics or veins. In primary pulmonary lymphangiectasia (PPL), the lymphatic abnormality can belocalised to the lung or be part of a more widespread abnormality of lymphatic drainage 2. Although PPL is assumed to result from an arrest in the development of thepulmonary lymphatics 3, the cause of PPL is not known. Most cases are sporadic and, although familial occurrences ofthis condition have been described 46, no genetic aetiology has been identified. PPL has been described in association with a number of chromosomal anomalies 7 andin patients with Noonan's syndrome 811. In addition, PPL is often described in association with cardiac anomalies 12 that are not associated with pulmonary venous hypertension.

Early descriptions of pulmonary lymphangiectasia from the pathology literature reported an incidence of 1% in consecutive necropsies on stillbirths and neonates 12, 13. The true incidence of PPL after the newborn period is not known and reports of PPL in infants and children are restricted to isolated case reports. Despite a number of case reports in which infants with PPL have survived and improved over time 2, 5, 11, 1417, congenital pulmonary lymphangiectasia continues to be considered as a condition with a poor prognosis 15, 18.

The current study describes the presentation, clinical findings, diagnosis, clinical course and outcome of infants diagnosed with PPL.


Study subjects and designRetrospective chart review was used to identify nine patients who were diagnosed with pulmonary lymphangiectasia in a university hospital-based paediatric pulmonology practice (North Carolina Children's Hospital, University ofNorth Carolina, Chapel Hill, NC, USA) over a 15-yr period (1987–2002). Evaluation of patients with PPL (n=9) included: radiological studies with chest radiograph (n=9) andchest computed tomography (CT) scan (n=5); flexible fibreoptic bronchoscopy (n=8); sweat chloride test (n=8); cardiac evaluation with echocardiography or catheterisation (n=8); pH probe for gastroesophageal reflux (n=7); andan immunological evaluation, including complete bloodcount with differential and immunoglobulin levels(n=8).

To determine the frequency of a diagnosis of PPL in infants and children who underwent open lung biopsy, the current authors reviewed the pathology reports of all open lung biopsies in infants and children over a 3-yr period (1999–2002).



Nine patients were identified with a diagnosis of PPL from 17,000 new patients seen in the current authors' clinic (North Carolina Children's Hospital) during the period under review (table 1). Eight of the nine patients were males. The patients were followed for a median of 6 yrs (range 3 months to 14 yrs) and ranged between 22 months and 17 yrs of age at the time of the current study. Two patients were lost to follow-up when they relocated to another area; another patient died of respiratory disease at 3 months of age


The median age at presentation was 3 months (range: newborn–12 months; table 1). Three of these patients presented in the neonatal period; the remaining six patients presented in the post-neonatal period. The diagnosis of PPL was made on the basis of lung biopsy in eight patients and classic clinical presentation, including respiratory distress and chylothorax, in one patient (patient 1). Three patients had some degree of generalised oedema at presentation, which resolved, but none of these patients had intestinal lymphangiectasia, which characterises the general form of lymphangiectasia as described by Noonan et al. 2.

Three of the patients required mechanical ventilation, all of whom presented in the neonatal period. One infant with generalised oedema had severe respiratory failure and was considered for extracorporeal membrane oxygenation. None of the patients who presented in the postneonatal period required mechanical ventilation, but three required home supplemental oxygen for some period of time. All but one of these patients had fine crackles on lung auscultation with clinical evidence of decreased lung compliance (intercostal retractions, increased work of breathing) at presentation. Wheezing was present in some cases and was variably responsive to albuterol. Respiratory symptoms improved in all patients who survived the neonatal period. The patient who died had Costello's syndrome and support was withdrawn at the age of 3 months.

Other diagnoses were common in these patients. One patient was diagnosed with Noonan's syndrome and had echocardiographic evidence of mild pulmonary valvular stenosis. The patient with Costello's syndrome also had mild pulmonary valvular stenosis. None of the other patients had clinically apparent chromosomal abnormalities. All but one of the patients had echocardiogram or cardiac catheterisation and no other major cardiac anomalies were detected. One patient did have pulmonary hypertension and tricuspid regurgitation noted on the first day of life, but this was resolved later. Gastroesophageal reflux disease was present in four patients and decreased immunoglobulins were detected in two patients.


Growth data up to the age of 3 yrs was available for six of the patients in this study and weight percentiles were derived from the Center for Disease Control 2000 population growth data for males aged 0–36 months 19. All of these patients were born at term with normal birth weights, but showed poor weight gain and some degree of growth failure between the ages of 3 months and 1 yr (fig. 1). By 3 yrs old, four of the six had regained normal growth. Two other patients did not have evidence of growth failure and another died at three months old.

Lung biopsy

PPL was confirmed in eight of the nine patients with open lung biopsy. No complications occurred in any patients during surgery. In one case, the diagnosis of pulmonary lymphangiectasia was not made until the pathology was re-reviewed 3 yrs after the original biopsy. In two other cases, the pulmonary lymphangiectasia was not evident on the first lung biopsy. In these two cases, initial lung biopsy showed diffuse alveolar damage or nonspecific changes with no evidence of lymphatic dilation. The patient who did not have a lung biopsy had generalised lymphoedema and chylothorax at birth. Lung biopsy was deferred because the patient's clinical condition improved. For the purposes of the current study, all available lung biopsies (n=6) from these patients were reviewed independently by two anatomic pathologists for lymphatic dilation in SP, peri-arterial (PA) and interlobular (IL) regions. In these patients, lymphangiectasia involved all of the regions that were examined (fig. 2). The lymphatic dilation was described as "severe" in five of six re-reviewed cases and "moderate" in one of six.

To exclude the possibility of lymphatic dilation that may be an artefact and associated with the cross-clamp wedge biopsy technique, control groups of all paediatric open lung biopsies over a 3 yr period (1999–2002) and all adult wedge biopsies from 2002 were reviewed. A total of 42 wedge biopsies in 31paediatric patients were evaluated. Focal lymphatic dilation was detected in six of 42 biopsies (14%) from four of 31 patients (13%). Two patients had pulmonary lymphangiectasia in a single region: one with osteosarcoma and extensive lung metastases (SP dilation in two of four biopsies) and another patient evaluated at 14 months for persistent tachypnoea (SP dilation in two of two biopsies). One patient with bronchopulmonary dysplasia and persistent tachypnoea had lymphatic dilation in two regions (SP and IL) of a single-wedge biopsy at 3 months old. One patient with known pulmonary veno-occlusive disease had lymphatic dilation in all three regions in a single-wedge biopsy obtained for the evaluation of a persistent radiological density. In the adult control group, 48 biopsies from 38 patients were reviewed. Single-site lymphatic dilation (SP: n=4; IL: n=2; PA: n=2) was observed in seven of 48 biopsies (14%) from seven of 38 patients (18%). These seven biopsies demonstrated carcinoma (n=4) and interstitial lung disease (n=3).

In summary, PPL biopsies showed lymphatic dilation involving three contiguous sites (SP, IL and PA) in all wedge biopsies, whereas control paediatric and adult wedge biopsies performed for non-lymphangiectasia lung diseases typically showed, at most, single-site lymphatic dilation and, then, in only 15% of biopsies.


Radiological findings for four of these patients have been described previously 20. Two of the patients in the current authors' study had pleural effusions (figs 3a and b). Initially, the three patients with a neonatal presentation had diffuse interstitial infiltrates. With the resolution of clinical symptoms, chest radiographs became progressively clearer, but with the emergence of increased interstitial markings and hyperinflation (figs 3c and d). Patients who presented outside the neonatal period had hyperinflation and increased interstitial markings at presentation, which improved over time (figs 4a and b). CT scans showed considerable parenchymal inhomogeneity with patchy areas of ground-glass infiltrates in the perihilar and SP regions. In two patients, lung disease was monitored by repeated CT scans (over an 18 month and 5 yr period, respectively). Although there was interval improvement in both patients, the pattern of parenchymal inhomogeneity was observed to persist in patient-specific regions of the lung (figs 4c and d).

Pulmonary function tests

Spirometry was performed on six of the nine patients (patients 1, 3, 4, 5, 7 and 8). Of the three missing patients, one patient died in infancy and the remaining two survivors were not old enough for reliable pulmonary function testing (PFT) at the time of the current study. Spirometry values obtained at the age of 6 yrs were compared. Four of the six patients had decreased forced vital capacity (FVC) and forced expiratory volume in one second (FEV1) with a relatively normal FEV1/FVC ratio. Two patients had small airways obstruction which improved after bronchodilator treatment, including one of thepatients with decreased FVC. One patient had normal spirometry. Lung volume measurements were obtained from three patients aged 7–14 yrs, all of whom had decreased FVC and FEV1 at the time of the measurement. These studies revealed relatively normal total lung capacity (range: 81–117% predicted) with increased residual volume (range: 139–234% pred) suggesting obstructive lung disease. Diffusion capacity obtained from two patients was normal. Longitudinal PFT data was available for four of the remaining seven patients. In four patients, in whom lung function was tracked by spirometry, FEV1 did not change significantly over time (fig. 5).


Eight of the nine patients underwent elective flexible fibreoptic bronchoscopy as part of a diagnostic evaluation for chronic lung disease. Three patients with recurrent lung infections underwent multiple procedures to assist with the identification of pathogenic organisms. Airway anatomy was normal in six of the eight patients; mild subglottic stenosis was noted in two. Bronchitis (increased secretions and neutrophil percentage on bronchoalveolar lavage fluid) was apparent on at least one occasion in six of the eight patients studied. In seven of the eight patients, bronchoalveolar lavage cultures grew pathogenic organisms including Moraxella catharralis and Staphylococcus aureus. In three of these patients, significant quantities (>100,000 organisms·mL–1 bronchoalveolar lavage fluid) of organisms were isolated


The cases described in the current study suggest that PPL has a variable presentation and the widespread characterisation of this condition as having a near-uniform poor prognosis needs to be revised. Although most patients had tachypnoea (increased respiratory effort with inspiratory crackles and failure to thrive), these symptoms improved over time.

Since this is a retrospective review of cases from one tertiary institution, the current authors were unable to accurately determine the incidence of PPL over this period. Although no neonatal death was ascribed to PPL during this period, it is possible that the diagnosis was not recognised in some cases of severe neonatal respiratory failure that resulted in early death. In addition, it is possible that a number of patients with mild disease were not diagnosed in infancy because of spontaneous regression of their disease.

The studied patients fell into two broad categories: those with neonatal or postneonatal onset. In the three patients with neonatal onset, all required prolonged mechanical ventilation, one required chest tube placement for removal oflarge amounts of chylous effusion and another had persistent unilateral nonchylous effusion. In the current study, respiratory symptoms improved over time in most patients, even in those who presented in the neonatal period. This contrasts with a study of 11 patients with PPL reported recently by Bouchard et al. 15 in which none of the six patients diagnosed in the neonatal period survived. However, two of these infants were <30>

Many of the previous reports that built the consensus about the poor outcome for PPL come from an era of limited neonatal intensive care capabilities and/or included infants with significant additional congenital or chromosomal abnormalities 3, 6, 12, 21. Whilst there are undoubtedly infants with extensive lymphangial derangements that may not be compatible with life, it is possible that many of the infants reported previously with uncomplicated PPL would have survived with current practices of neonatal intensive care. This assertion is supported by a recent study of an infant with respiratory failure and severe chylous drainage who survived following aggressive neonatal respiratory support 22. The current study suggests that survival of neonatal onset PPL is not uncommon and that, in survivors, the condition will improve.

Of the six patients with a postneonatal onset, all presented between 2 and 12 months of age with increased work of breathing and crackles on auscultation of the chest, after an apparently symptom-free period earlier in life. The reason these infants do not present at birth is difficult to explain. At birth, additional stress is placed on interstitial clearance mechanisms as the large volume of foetal lung liquid that occupies the alveolar compartment during gestation is absorbed from the lung lumen to make way for air-breathing
23. Whilst some alveolar fluid is cleared via the lung lymphatics, resulting in an increase in lung lymph flow at birth, most of lung liquid reabsorbed from the alveolar space is thought to pass directly into the foetal circulation 24. This lack of reliance of the pulmonary lymph channels at birth may explain why the majority of patients with PPL did not develop respiratory failure in the neonatal period. There is a paucity of information regarding lymphatic development in infancy that can assist in explaining why a number of infants present with symptoms for the first time at a few months of age, some of whom worsen during the first few months after presentation 15, 25. There are few chronic clinical entities that mimic these findings; the differential diagnosis includes: pulmonary aspiration syndromes, interstitial lung disease and indolent/recurrent pulmonary infection.

In addition to significant respiratory symptoms and recurrent lower respiratory infections, the infants in the current study had significant growth failure during the first year of life, which corrected fully by 3 yrs of age. There was no clinical evidence of malabsorption in these infants, and the failure to gain weight was ascribed to decreased intake and increased energy expenditure associated with respiratory effort and infections. The repeated lower respiratory infections in the studied patients were assumed to be secondary to mechanical factors (e.g. poor lung compliance) related to retention of interstitial fluid. The mild immune deficiencies detected in two patients may have contributed to the recurrent infections, but other patients did not have evidence of immune dysfunction. Since gastroesophageal reflux has been associated with other chronic respiratory diseases 26, two patients underwent Nissen fundoplication for documented reflux that was unresponsive to medical therapy. There was no improvement in respiratory condition after surgery.

A clinical diagnosis of PPL can be made in full-term neonates presenting with respiratory distress, pleural effusions (particularly if chylous) with or without generalised oedema. In older infants, the diagnosis may be harder to determine because symptoms are likely to be more subtle and may be similar to other causes of persistent tachypnoea in infancy 27. The diagnosis can be assisted by radiological findings and confirmed by lung biopsy. The radiological findings in the studied patients are similar to those described previously by others 2, 11, 15, 20, 25. The progression of generalised hazy infiltrates in the neonatal period to a more perihilar interstitial pattern with hyperinflation was seen consistently. A recent report suggests that magnetic resonance imaging may be useful for the imaging of pulmonary lymphangiectasia 18. The decision to submit patients to lung biopsy was determined by the uncertainty of the diagnosis. In the patient who did not have a lung biopsy, the diagnosis of PPL was made from a presentation of generalised oedema and chylothorax. In the patients who had repeat lung biopsy, the pathological findings changed over time. The first biopsies indicated nonspecific changes that were probably secondary to an acute viral infection. The absence of lymphagiectatic changes on the first biopsies raises the possibility that viral infection may have been a trigger for subsequent lymphatic obstruction. The ability of viruses to induce structural changes in the lung is well documented 28; however, the current authors are not aware of any reports of damage to pulmonary lymphatics following viral infection.

From the current authors' experience, the pathological diagnosis of PPL from a lung biopsy can be made with confidence, since minimal evidence of lymphangiectasia artefacts that could be ascribed to biopsy technique were seen. The biopsy samples from infants with clinical and radiological evidence of PPL showed severe lymphatic dilation in all three lymphatic compartments and were readily differentiated from the occasional isolated lymphangiectasia seen in the control samples from children's lungs.

The widely held view that this condition has a fatal outcome was moulded by earlier reports of primary pulmonary lymphangiectasia in the pre-ventilation era of neonatal intensive care. The current authors conclude that the recent descriptions of this condition as having a "dismal" 15, "usually lethal" 29 or "very poor" 30 prognosis do not take account of the contribution of coexisting disease to outcome in many of these patients or the recent advances in neonatal care that allow survival in neonates with primary pulmonary lymphangiectasia. The current authors' experience, as well asthat described in numerous case reports, suggests that survival can be anticipated in neonatal onset primary pulmonary lymphangiectasia without additional anomalies, and that the prognosis is excellent for the postneonatal onset form of primary pulmonary lymphangiectasia. The limited observation of a number of these studied patients over time suggests that, although not normal, lung function does not worsen with advancing age. However, the long-term prognosis and lung function in adult survivors with primary pulmonary lymphangiectasia has not been determined.

European Respiratory Journal

Monday, August 21, 2006

Hemihypertrophy and primary small intestinal lymphangiectasia

Hemihypertrophy and primary small intestinal lymphangiectasia in incontinentia pigmenti achromians

Riyaz A, Riyaz Najeeba, Anoop P, Chandni B, Noushad KDepartments of Pediatrics, Medical College, Calicut, Kerala, India

Correspondence Address:"ARAKKAL", Chalappuram, Calicut - 673 002, Kerala State,


A rare occurrence of primary small intestinal lymphangiectasia in an 8-year-old girl with incontinentia pigmenti achromians is reported. In addition, she had right sided hemihypertrophy. Though intestinal lymphangiectasia is known to have a few syndromic associations, its co-existence in a child with incontinentia pigmenti achromians has not yet been reported in the literature. Hemihypertrophy is also extremely rare in the latter and only very few instances of an association between the two have been documented previously.

Incontinentia pigmenti achromians (IPA), also known as hypomelanosis of Ito, is a neurocutaneous syndrome. It is characterized by skin lesions similar to a negative image of that present in the classical form of incontinentia pigmenti described by Bloch and Sulzberger. In addition to dermatologic and oral manifestations, the nervous and musculoskeletal systems are involved to a varying extent.[1] Primary small intestinal lymphangiectasia (PSIL) has not so far been described to be associated with IPA. A girl with the classical features of IPA along with hemihypertrophy and PSIL is reported. An association between hemihypertrophy and IPA has very rarely been reported in the literature.[2],[3]

Case Report

An 8-year-old girl born of a non-consanguineous marriage was evaluated for abdominal pain and ascites of subacute onset. She had mild mental retardation with a history of generalized tonic clonic convulsions since two years of age. Characteristic hypopigmented patches and streaks of IPA were present over the trunk and extremities [Figure - 1]. The whole of the right side of her body was hypertrophied. There were no dysmorphic features or congenital malformations. Cardiovascular and neurologic examinations were unremarkable. There was no hepatosplenomegaly.

She had lymphopenia; her total leukocyte count (TLC) was 5400/mm3 with 16% lymphocytes. There was no albuminuria. The total serum protein level was 4.8 gm/dl with an albumin fraction of 1.9 gm/dl. Her serum lipid profile revealed cholesterol of 104 mg/dl and a triglyceride level of 38 mg/dl. Tests of liver function showed a serum bilirubin of 1.1 mg/dl with a conjugated fraction of 0.2 mg/dl, alkaline phosphatase of 155 U/L and alanine aminotransferase (ALT) of 36 U/L. She had a blood urea of 18 mg/dl and a serum creatinine of 0.6 mg/dl. An ultrasonogram (USG) of abdomen detected free fluid within the peritoneal cavity, normal echotexture of liver and a normal portal vein.

Abdominal paracentesis revealed chylous ascites with 3.1 gm/dl proteins. The serum ascites albumin gradient (SAAG) was 0.9. Light microscopic examination of stool revealed the presence of 10-15 lymphocytes per high power field (HPF). A barium meal follow-through showed prominent valvulae conniventes and thickened nodular mucosal folds with the characteristic stacked coin configuration well known in PSIL [Figure - 2].

Gastroduodenoscopy revealed scattered white spots over the duodenal mucosa, having a snow-flake appearance [Figure - 3]. Biopsy from these sites demonstrated villus injury with dilated lymphatics and marked lymphocytic inflammatory changes [Figure - 4]. Based on these findings, she was diagnosed to have PSIL. Skin biopsy from one of her hypopigmented patches showed normal histology. A genetic analysis of blood and skin fibroblasts revealed a normal pattern of chromosomes.She was put on a diet rich in proteins and low in fat content. In addition, medium chain triglyceride (MCT) supplementation was provided. A repeat full blood count two months later revealed a TLC of 6900/mm3 with 28% lymphocytes. Stool microscopy showed 5-7 lymphocytes per HPF. Her total serum protein had increased to 5.3 gm/dl, with an albumin fraction of 2.4 gm/dl. Abdominal USG detected only minimal free fluid in the peritoneal cavity. However, serum cholesterol and triglyceride levels continue to remain low, at values of 122 and 44 mg/dl respectively.


IPA was first described by Ito in 1952. The hallmark of this heterogeneous group of inherited disorders is the marble cake-like whorls and streaks of hypopigmentation.[4] The skin lesions are similar to a negative image of that present in the X-linked dominant incontinentia pigmenti.[5] The palms, soles and mucous membranes are usually spared.[6] This girl had the typical dermatological pattern of this disorder. Skin biopsy usually reveals normal histology, as in her case.[4]

The pattern of inheritance in IPA is diverse. Previous reports have identified many cases to be associated with chromosomal mosaicism.[7],[8] In a study on 41 pediatric cases over a period of 20 years, chromosomal anomalies were encountered in 3 children.[7] Another report by Ohashi et al described chromosomal mosaics in lymphocytes and skin fibroblasts in 5 out of 9 individuals with pigmentary dysplasias of skin.[8] However, a genetic analysis of the present case showed a normal chromosomal pattern.

Apart from skin manifestations, ocular anomalies like strabismus, epicanthal folds and myopia are well known associations. Ophthalmologic evaluation of the present case did not reveal any of these abnormalities. Nervous system involvement in the form of seizures, electroencephalogram abnormalities and mental retardation are common.[7] Generalized tonic clonic seizures were encountered in this girl as well. In addition, she also had mild mental retardation. Musculoskeletal asymmetry is another common association - hemiatrophy has been reported in many patients. However this girl had hemihypertrophy of right side, which has very rarely been documented in IPA. A thorough search of the literature revealed only very rare reports of an association between the two.[2],[3]

The chylous ascitic fluid in the presence of a normal cardiac, hepatic and renal status pointed towards a possible lymphatic etiology. The diagnosis of PSIL seemed highly probable on barium contrast radiographs. An esophago-gastro-duodenoscopy with biopsy clinched the diagnosis.

Intestinal lymphangiectasia is a disorder that impairs lymphatic flow from the intestine, resulting in excessive enteric loss of plasma proteins.[9] Its symptoms and signs range from abdominal pain to hypoproteinemic edema and chylous ascites.[10] The presence of stool lymphocytes, lymphopenia, hypoalbuminemia and hypolipidemia are strong pointers towards a diagnosis of PSIL, as in the present case.

An endoscopy and histological study confirms the diagnosis. The duodenal mucosa may show scattered white spots having a snowflake-like appearance. Under a dissecting microscope, milky white substances are seen in the stroma of the villi. A high fat meal during the evening before endoscopic evaluation may make the diagnosis more apparent.[11] Small bowel contrast studies show thickened nodular mucosal folds that simulate the stacking of coins.[10] All these confirmatory tests showed the typical features of PSIL in this patient also.

An association between these two seemingly unrelated disorders could not be located in the literature. PSIL is known to occur in families.[12] De Sousa et al described intestinal lymphangiectasia in four out of seven intestinal biopsies performed on children with nephrotic syndrome.[13] A few genetic associations have also been recorded, the most striking being a patient with Noonan syndrome.[14] But whether PSIL actually was present remains a debatable point, as the same patient also had complex heart disease with right sided cardiac failure, which can very well result in secondary intestinal lymphangiectasia. Haddad and Wilkins found an association with a case of Turner syndrome.[15] In the present case, the association of various types of focal lesions, namely hemihypertrophy, pigmentary anomalies and lymphangiectasia strongly suggests the possibility of somatic mosaicism or a genetic mutation.

Dietary modification is the mainstay of management of such children. A high protein low fat diet with MCT supplementation (C 6:0 to C 12:0) is the standard recommendation.[16] The rationale is that MCT directly enters the portal venous system, bypassing the intestinal lymphatics. This modality of treatment was tried in our patient as well. Varying degrees of success have been described, ranging from partial reversal of lymphopenia to complete correction of the blood profile. The parameters which showed improvement with therapy in the present case were serum total protein, albumin and absolute lymphocyte count. A reduction in the volume of ascitic fluid and the number of stool lymphocytes were also noted.

The authors report this girl with the typical features of IPA and PSIL on account of the extreme rarity of such an association. The embryonic origin of epidermal and lymphatic tissues is diverse. The former arises from the ectoderm whereas the latter is mesodermal in origin. Hence a derangement in embryogenesis seems to be an unlikely etiology for the co-existence of IPA and PSIL in this girl. Her hemihypertrophy may well be an incidental finding, partially attributable to lymphedema. In any event, it may be of some benefit to strongly consider the rare entity of PSIL in the differential diagnosis of edema in a child with IPA. The report also re-emphasizes the benefits of dietary modification in such children and the limited role for drug therapy.


Jelinek JE, Bart RS, Schiff SM. Hypomelanosis of Ito (incontinentia pigmenti achromians): Report of three cases and review of literature. Arch Dermatol 1973; 107: 596-601. [PUBMED]
Dawn G, Dhar S, Handa S, Kanwar AJ. Nevus depigmentosus associated with hemihypertrophy of the limbs. Pediatr Dermatol 1995; 12(3): 286-287.
Flannery DB. Pigmentary dysplasias, hypomelanosis of Ito and genetic mosaicism. Am J Med Genet 1990; 35: 18-21. [PUBMED]
Takematsu H, Sato S, Igarashi M, Seiji M. Incontinentia pigmenti achromians (Ito). Arch Dermatol 1983; 119: 391-395.
Glover M, Brett EM, Atherton DJ. Hypomelanosis of Ito: Spectrum of the disease. J Pediatr 1989; 115: 75-80.
Pinto FJ, Bolognia JL. Disorders of hypopigmentation in children. Pediatr Clin North Am 1991; 38: 991-1017. [PUBMED]
Ruiz-Maldonado R, Toussaint S, Tamayo L, Laterza A, del Castillo V. Hypomelanosis of Ito: Diagnostic criteria and report of 41 cases. Pediatr Dermatol 1992; 9: 1-10. [PUBMED]
Ohashi H, Tsukahara M, Murano I, Naritomi K, Nishioka K, Miyake S et al. Pigmentary dysplasias and chromosomal mosaicism: Report of 9 cases. Am J Med Genet 1992; 43(4): 716-721.
Waldmann TA, Steinfeld JL, Dutcher TF, Davidson JD, Gordon RS Jr. The role of the gastrointestinal system in idiopathic hypoproteinemia. Gastroenterol 1961; 41: 197-207. [PUBMED]
Vardy PA, Lebenthal E, Shwachman H. Intestinal lymphangiectasia: A reappraisal. Pediatrics 1975; 55: 842-851.
Veldhuyzen van Zanten SJO, Bartelsman JFWM, Tytgat GNJ. Endoscopic diagnosis of primary intestinal lymphangiectasia using a high fat meal. Endoscopy 1986; 18: 108-110.
Shani M, Theodor EM, Frand M, Goldman B. A family with protein losing enteropathy. Gastroenterol 1974; 66: 433-445.
De Sousa JS, Guerreiro O, Cunha A, Araujo J. Association of nephrotic syndrome with intestinal lymphangiectasia. Arch Dis Child 1968; 43: 245-248.
Vallet HL, Holtzapple PG, Eberlein WR, Yakovac WC, Moshang T, Bongiovanni AM. Noonan syndrome with intestinal lymphangiectasis: A metabolic and anatomic study. J Pediatr 1972; 80: 269-274.
Haddad HM, Wilkins L. Congenital abnormalities associated with gonadal aplasia. Pediatrics 1959; 23: 885-890.
Jeffries JH, Chapman A, Sleisenger MH. Low fat diet in intestinal lymphangiectasia. N Engl J Med 1964; 270: 761-766.

Indian Journal of Pediatrics

Monday, August 14, 2006

Hennekam Lymphangiectasia Syndrome


Classified as a developmental disorder of the lymphatics. First described by Dutch physician R.C.M. Hennekam in 1989.


Characteristics include Intestinal or pleural lymphangiectasia was accompanied by the usual hypoproteinemia, hypogammaglobulinemia, and lymphocytopenia. Facial anomalies included flat face, flat nasal bridge, hypertelorism, epicanthal folds, small mouth, tooth anomalies, and ear defects. Complications involve severe lymphedema cellulitis and erysipelas.
There is no specific treatment for the condition, only management of the complications.Also, related to Turner Syndrome.


Malformation or dilation of lymphatic channels resulting in lymph blockages and accumulation of fluids in the affected body areas.


This condition can either be primary (hereditary), primary (congenital) or can be secondary as a result of cancers, cardiac conditions, tuberculosis, scleroderma, lupus, fibrosis, endometriosis as well as other factors.


There is no cure for lymphangiectasia. Treatment is focused on control of complications, control through dietary habits and possible drug therapy for various symptoms.


Hennekam syndrome - Definition"Intestinal lymphangiectasia; severe lymphedema of the limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation.

Hennekam SyndromeMultiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes


Hennekam et al. (1989) described a syndrome of intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face, and severe mental retardation. Intestinal lymphangiectasia was accompanied by the usual hypoproteinemia, hypogammaglobulinemia, and lymphocytopenia. Facial anomalies included flat face, flat nasal bridge, hypertelorism, epicanthal folds, small mouth, tooth anomalies, and ear defects. The facial appearance was Oriental. Down syndrome had been suspected in some of the patients. The patients had seizures. Erysipelas was a problem complicating the edema of the legs. Autosomal recessive inheritance was strongly supported by the occurrence of the disorder in 2 males and 2 females of 2 sibships from parents who shared a common ancestral couple. Hennekam et al. (1989) reviewed genetic syndromes with lymphangiectasia and lymphedema as features.

Gabrielli et al. (1991) reported a male, born of second-cousin parents, with facial anomalies, syndactyly of the fingers, equinovarus feet, and cryptorchidism were present at birth. He had had soft and abundant feces most of his life. He was first hospitalized at age 4 for leg edema and was found to have hypoalbuminemia, hypogammaglobulinemia, and lymphopenia. Conductive hearing loss was demonstrated at age 9 years. Gabrielli et al. (1991) provided photographs of the patient at age 14 years. The typical face was characterized by flat midface, flat nasal bridge, hypertelorism, epicanthal folds, small mouth, tooth anomalies, and small ears. The hand showed cutaneous syndactyly and camptodactyly. Seizures were thought to be related to hypocalcemia; however, it would seem that the ionized calcium may be normal. Pachygyria was demonstrated which may account for mental retardation and seizures.

Yasunaga et al. (1993) described the case of a 7-year-old boy with protein-losing gastroenteropathy. He had a face typical of Hennekam syndrome, including flat nasal bridge, hypertelorism, small mouth and tooth anomalies, but did not have mental retardation or severe lymphedema. Yasunaga et al. (1993) suggested that the child had a mild form of Hennekam syndrome. Study of the family in 3 generations suggested that heterozygotes may have some of the facial features.

Cormier-Daire et al. (1995) described a girl with intestinal lymphangiectasia, severe lymphedema of the limbs, seizures, mild mental retardation, and facial anomalies consistent with the diagnosis of Hennekam syndrome. In addition, she had an ectopic kidney and craniosynostosis of the coronal suture, 2 manifestations not previously reported in this disorder.
Scarcella et al. (2000) described 2 sisters with facial anomalies, protein-losing enteropathy, and intestinal lymphangiectasia consistent with the diagnosis of Hennekam syndrome. Both had a number of other anomalies not previously described in this disorder: primary hypothyroidism, hypertrophic pyloric stenosis, and an early fatal outcome at 8 and 3 months, respectively.

Polyhydramnios complicated each pregnancy in the third trimester. At birth the older sister had flat face with flat and broad nasal bridge, short philtrum, hypertelorism, gingival hypertrophy, and mild retrognathia; the younger sister had similar features. Hepatosplenomegaly and lymphedema of the limbs developed in the first month of life in the first born. She died from a severe septic event at 8 months of age, after having recurrent gastroenteric and respiratory infections associated with severe hypogammaglobulinemia. Autopsy showed extensive lymphangiomatosis of the mediastinum, pleura and peritoneum, and intestinal lymphangiectasia. Fetal hepatomegaly was detected in the second born, who died at 3 months of age from cardiac failure due to severe refractory hypoproteinemia.

Forzano et al. (2002) reported an Italian patient with severe lymphedema of the lower limbs, genitalia, and face, intestinal lymphangiectasia, seizures, and moderate mental retardation. He had a flat face, depressed nasal bridge, and hypertelorism. Forzano et al. (2002) proposed that the patient had a severe form of Hennekam syndrome.

Van Balkom et al. (2002) reported 8 patients with Hennekam syndrome and compared their findings with those of the 16 previously reported cases. Lymphedema was usually congenital, sometimes markedly asymmetric, and often gradually progressive. Complications, such as erysipelas, were common. Lymphangiectasias were found in the intestines and occasionally in the pleura, pericardium, thyroid gland, and kidney. Several patients demonstrated congenital cardiac and blood vessel anomalies, suggesting a disturbance in angiogenesis. Typical facial features included flat face, flat and broad nasal bridge, and hypertelorism, but the features were variable and thought to mirror the extent of intrauterine facial lymphedema. Other anomalies included glaucoma, dental anomalies, hearing loss, and renal anomalies. Psychomotor development varied widely, even within a single family, from almost normal development to severe mental retardation. Convulsions were common. The existence of 10 familial cases, equal sex ratio, increased parental consanguinity rate, and absence of vertical transmission were consistent with an autosomal recessive pattern of inheritance.

Bellini et al. (2003) described a female infant with congenital lymphedema, facial anomalies, and intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth, the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax, and pulmonary lymphangiectasia.

Al-Gazali et al. (2003) reported 4 children from 4 inbred Arab families with varying manifestations of Hennekam syndrome as well as additional features, including abnormalities of the middle ear, anomalous pulmonary venous drainage, interrupted inferior vena cava, polysplenia, crossed renal ectopia, median position of the liver, and multiple cavernous haemangiomas. Since anomalies of the veins and the consequent developmental abnormalities of the lymphatics might lead to alterations in the fluid balance of the embryo, Al-Gazali et al. (2003) hypothesized that altered fluid dynamics due to defective vascular and lymphatic development might disrupt critical events in craniofacial morphogenesis, resulting in Hennekam syndrome.


1. Al-Gazali, L. I.; Hertecant, J.; Ahmed, R.; Khan, N. A.; Padmanabhan, R. :
Further delineation of Hennekam syndrome. Clin. Dysmorph. 12: 227-232, 2003.PubMed ID :
2. Bellini, C.; Mazzella, M.; Arioni, C.; Campisi, C.; Taddei, G.; Toma, P.; Boccardo, F.; Hennekam, R. C.; Serra, G. :
Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. Am. J. Med. Genet. 120A: 92-96, 2003.PubMed ID :
3. Cormier-Daire, V.; Lyonnet, S.; Lehnert, A.; Martin, D.; Salomon, R.; Patey, N.; Broyer, M.; Ricour, C.; Munnich, A. :
Craniosynostosis and kidney malformation in a case of Hennekam syndrome. Am. J. Med. Genet. 57: 66-68, 1995.PubMed ID :
4. Forzano, F.; Faravelli, F.; Loy, A.; Di Rocco, M. :
Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype. Am. J. Med. Genet. 111: 68-70, 2002.PubMed ID :
5. Gabrielli, O.; Catassi, C.; Carlucci, A.; Coppa, G. V.; Giorgi, P. :
Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: confirmation of the Hennekam syndrome. Am. J. Med. Genet. 40: 244-247, 1991.PubMed ID :
6. Hennekam, R. C. M.; Geerdink, R. A.; Hamel, B. C. J.; Hennekam, F. A. M.; Kraus, P.; Rammeloo, J. A.; Tillemans, A. A. W. :
Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. Am. J. Med. Genet. 34: 593-600, 1989.PubMed ID :
7. Scarcella, A.; De Lucia, A.; Pasquariello, M. B.; Gambardella, P. :
Early death in two sisters with Hennekam syndrome. Am. J. Med. Genet. 93: 181-183, 2000.PubMed ID :
8. Van Balkom, I. D. C.; Alders, M.; Allanson, J.; Bellini, C.; Frank, U.; De Jong, G.; Kolbe, I.; Lacombe, D.; Rockson, S.; Rowe, P.; Wijburg, F.; Hennekam, R. C. M. :
Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. Am. J. Med. Genet. 112: 412-421, 2002.PubMed ID :
9. Yasunaga, M.; Yamanaka, C.; Mayumi, M.; Momoi, T.; Mikawa, H. :
Protein-losing gastroenteropathy with facial anomaly and growth retardation: a mild case of Hennekam syndrome. Am. J. Med. Genet. 45: 477-480, 1993.

PubMed ID : 8465855

Friday, August 11, 2006

Cutaneous Lymphangiectasia

Cutaneous Lymphangiectasia Secondary To Lymph Node Tuberculosis

Riyaz Najeeba, Nair V Laxmi ,
Correspondence Address:Riyaz Najeeba


Acquired cutaneous lymphangiectasia in two female patients with tuberculous lymphadenitis of the inguinal glands is described.

Keywords: Cutaneous lymphangiectasia, Tuberculous lymphadenitis


Cutaneous lymphangiectasia represents a rare cutaneous condition resulting from lymphatic obstruction caused by a spectrum of scarring processes. We report 2 such cases that occurred as a consequence of lymph node tuberculosis.

Case 1

A 38- year -old woman was seen with elephantiasis and multiple warty papules of the vulva of 4 years duration. The lesions occasionally ruptured and got infected. Past medical history was significant for bilateral inguinal swellings of 8 years duration. The inguinal swellings used to rupture and healed gradually with scarring in a period of 6 months. She also had irregular fever. There was no personal or family history of pulmonary tuberculosis or any history of genital ulcer.

The pubic region was oedematous and the labia majora were swollen and firm in consistency and studded with multiple papulovesicles [Figure - 1].

Inguinal region showed a few non tender, matted lymph nodes of size 2x1.5cm and scars on both sides. Systemic examination was normal.

The lymph node biopsy was consistent with tuberculous lymphadenitis and the biopsy of a cutaneous lesion showed dilated lymph spaces lined with endothelium. Other investigations were normal except for positive Mantoux text and raised ESR.

Inspite of adequate antituberculosis treatment the skin lesions persisted and hence she was sent for plastic surgical repair.

Case 2

A 65-year-old woman was seen with swelling of the external genitalia of 1 year duration and multiple vulva) papules and papulovesicles of 3 months duration. She gave history of (R) inguinal swelling 5 years ago which was incised. This persisted as a discharging sinus for a long time and gradually healed with scarring. Inguinal biopsy report was tuberculous adenitis and was put on antituberculosis drugs, which she took only for 2 months. After a year she developed similar lesions on the (L) inguinal region which also suppurated and led to discharging sinuses and gradually healed.

One year later she noticed elephantiasis of the vulva and gradual development of occasionally pruritic papulovesicles.There was no history of pulmonary tuberculosis in her or in other family members. She denied any history of genital ulcer.

Skin biopsy of the warty lesion showed hyperkeratosis and acanthosis. Multiple dilated lymph spaces were seen in the upper dermis.


Majority of the cutaneous lymphangiomas are congenital in origin. Occasionally they arise from lymphatic obstruction due to malignancies,' radiation therapy,' cutaneous trauma' or secondary to infectious diseases like lymph node tuberculosis,[4] recurrent erysipelas, filariasis and lymphogranuloma venereum. Heuvel et al[4] described a case of vulval lymphangiectasia secondary to lymph node tuberculosis, exactly similar to our patients. Lymphangiecatses of the chest wall resulting from scarring scrofuloderma has been reported by Leonardo et al.[5] Lymphatic obstruction leads to dilatation of lymph channels in the superficial and middermis or even in the deep dermis or subcutaneous tissues. The overlying epidermis may show varying degrees of hyperkeratosis, acanthosis and papillomatosis and may appear to enclose the ectatic lymphatic channels.[6]


Weakly DR, Juhlin EA. Lymphangiectases and lymphangiomata. Arch Dermatol 1961; 84:574.
Fisher I, Orkin M. Acquired lymphangioma (lymphangiectasis) report of a case. Arch Dermatol 1970; 101:230. [PUBMED]
Zufall R. Lymphangiectasis of penis. Urology 19: 53, 1982; 19:53.
Heuvel NVD, Stolz E, Notowicz A. Lymphangiectasias of the vulva in a patient with lymph node tuberculosis. Int J Dermatol 1979; 18:65-66.
Leonardo MD, Jacoby PA. Acquired cutaneous lymphangiectasis secondary to scarring from scrofuloderma. J Am Acad Dermatol 1986;14: 688-689.
Lever WF, Schaunburg Lever G. Histopathology of the Skin, Ed 6.Philadelphia 1983, JB Lippincott Co. PP. 631-633.

Indian Journal of Dermatology

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Acquired cutaneous lymphangiectasia in a patient with cirrhotic ascites.

Garcia-Doval I, de la Torre C, Losada A, Ocampo C, Rodriguez T, Cruces MJ.Service of Dermatology, Hospital Provincial de Pontevedra, Spain.

Lymphangiectasia results from acquired dilation of lymphatic vessels. Areas of skin affected by obstruction or destruction of lymphatic drainage are said to be prone to the development of lymphangiectasia. Cirrhosis is a cause of alterations of lymph flow.

Case report.

We report a case of acquired, late-onset, lymphangiectasia associated with alcoholic hepatic cirrhosis. Lesions were scattered over the right, lower, anterior abdominal wall, a region that is drained by a common group of lymphatic vessels that were probably disordered.

We think that this is the first reported case of lymphangiectasia associated with altered lymph flow in cirrhosis and ascites.

Publication Types:
Case ReportsPMID: 10568489 [PubMed - indexed for MEDLINE]

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Acquired lymphangiectasis after breast conservation treatment for breast cancer: Report of a case

Ismet Tasdelen1, Sehsuvar Gokgoz1, Ela Paksoy1, Omer Yerci2, Sibel Kahraman Cetintas3, Mutlu Demiray4, Veysi Samsa1Dermatology Online Journal 10 (1): 9 From the Departments of Surgery1, Pathology2, Radiation Oncology3, and Medical Oncology4, School of Medicine, University of Uludag, 16059, Bursa, Turkey.


Acquired lymphangiectasis is a dilatation of lymphatic vessels that can result as a complication of surgical intervention and radiation therapy for malignancy. Acquired lymphangiectasis shares clinical and histological features with the congenital lesion, lymphangioma circumscriptum. Diagnosis and treatment of these vesiculobullous lesions is important because they may be associated with pain, chronic drainage, and cellulitis. We describe patient who had these lesions after treatment for cancer. Although a number of treatment options are available, we have found cryosurgery and electrocautery to be particularly effective.


Acquired lymphangiectasis (AL) represent superficial lymphatic dilatation caused by a wide range of scarring processes and occurs as a consequence of lymphatic damage by an external cause, leading to obstruction of local lymphatic drainage. It has been reported after treatment of breast, vulva, cervix, skin, and lung cancers and it is sometimes termed acquired lymphangiomas [1]. This condition has also been associated with metastatic lymph node invasion and obstruction, scleroderma, and scrofuloderma. Acquired lymphangiomas most commonly occur in adults as a late sequel of mastectomy and radiation therapy. Patients usually present with numerous translucent vesicles in a chronic lymphedematous area several years after surgery with or without radiation therapy [2]. This report describes a case of acquired lymphangiectasis of the breast in 68-year-old woman. We discuss the clinical features, diagnosis, and treatment of acquired lymphangiectasis of the breast with a literature review.

Clinical Summary

A 68-year-old woman presented to our outpatient clinic for evaluation of multiple small vesicular lesions on the left breast. Three years earlier, she had had a breast conservative treatment—lumpectomy, chemotherapy, and radiation therapy for grade II invasive lobular carcinoma of the left breast. The breast lesions started to develop three years after breast conservative treatment. The patient had not had any significant lymphedema. On physical examination, the patient had numerous isolated and translucent vesicles and bullae of the inferior left nipple (Figs.1, 2). They measure 2 to 3 mm in diameter. No lymphedema was present also. We performed biopsy from lesions that showed numerous dilated lymphatics, edema and mononuclear inflammatory cells throughout the papillary and reticular dermis (Fig. 3). With these clinical and histological findings the patient was diagnosed as cutaneous lymphangiectasis.

Some of the lesions were treated with cryosurgery and others were drained and then treated with electrocautery. Cryotherapy freezes these lesions with liquid nitrogen (-195.8°:). Cryotherapy was applied to the skin twice for 20 seconds. Daily wound care consisted of gentle cleansing with povidone iodine and application of mupirocin ointment. At 8 weeks, the wound had completely re-epitheliazed. The wounds healed without scarring and there was no evidence of recurrence in subsequent 2 months.


Acquired lymphangiectasis is a condition in which dilated superficial lymphatics develop after damage to previously normal lymphatics. Acquired lymphangiectasis has been reported as clinically and histologically indistinguishable from congenital lymphangioma circumscriptum and is often reported in the literature as lymphangioma circumscriptum or acquired lymphangiomas [2, 3, 4, 5].

Cutaneous lymphangiectasis (CL) represents acquired vesicular dilatation of lymphatic channels secondary to an external cause with no evidence of true tumor formation. It has been associated mostly with the treatment of malignancies of breast and cervix and is often coexistent with lymphedema [1, 6, 7, 8]. There have also been reports of CL after treatment of myxoid chondrosarcoma and bronchial carcinoid [4, 9]. It has been documented after surgery alone, surgery and irradiation, and irradiation alone [8, 10]. Other reported cases without lymphedema include scarring from scrofuloderma, scleroderma, and cirrhosis [11, 12, 13].

Acquired lymphangiectasis has been reported in the literature with increased frequency in the past 20 years. This is most likely the result of increased surgical excision, surgery and radiation therapy for certain cancers. This condition has been documented to occur after surgical excision, surgery and irradiation and irradiation alone [3, 4, 10]. In our case, new lesions of lymphangiectasia ceased to develop after the conservative treatment. Although AL has been documented to occur after surgical intervention alone, we believe that x-ray therapy is a major contributor in its pathogenesis because the main site of injury of x-ray therapy is a major contributor in its pathogenesis, the site of injury from x-ray therapy is at the junction the fat and reticular dermis [8, 14]. This damage most likely causes fibrosis and lymphatic obstruction at the base of the reticular dermis and an accumulation of lymph fluid in the dermal lymphatics with resultant increased pressure [8]. This can then lead to sacular dilation of the superficial lymphatic channels with subsequent vesicle formation. The cutaneous lesions can range from clear, fluid-filled blisters to smooth, flesh-colored nodules, often appearing along an incisional scar. Coexisting lymphedema is present in most patients with acquired lymphangioma. Patients can present with localized wetness or copious drainage of clear or milky fluid from ruptured vesicles. Clinically, lymphangiectasia consists of several clusters of translucent, thick-walled, fluid-filled vesicles. The vesicles typically measure 2-10 mm in diameter. The affected area appears to be speckled by numerous translucent vesicles with normal-appearing skin among the lesions. Some lesions may become pedunculated with a hyperkeratotic verrucous surface mimicking a wart. The physical findings of our case were the patient had numerous isolated and translucent vesicles of the inferior left nipple area. They measure 2-3 mm in diameter. On microscopic examination, large, dilated lymph vessels lined by a single layer of endothelial cells characterize lymphangiectasis. They are usually found in the papillary dermis and the reticular dermis. Involvement in the deeper dermis is rare. At times, acquired lymphangiectasis grow above the level of adjacent skin. The histological findings of our case were consistent with these features, the numerous dilated lymphatics, edema and mononuclear inflammatory cells throughout the papillary and reticular dermis.

Complications of AL include leakage of the vesicles, recurrent cellulites, and pain [15, 16]. Acquired lymphangiectasis is not precancerous, although there is one reported case of a squamous cell carcinoma arising in lymphangioma circumscriptum [17]. This entity is different from the Stewart-Treves syndrome of lymphangiosarcoma developing in the setting of post-mastectomy lymphedema. Edematous and ecchymotic plaques progressing to red to purple nodules characterize lymphangiosarcoma [1].

Treatment for lymphangiectasis can be difficult, but it is important because of the risk that ruptured vesicles may provide a portal of entry for infection and subsequent cellulites. To prevent superinfection of ruptured vesicles, cleansing the affected area daily with topical antibacterial agents and applying mupirocin ointment or silver sulfadiazine cream are advisable. Many surgical treatment modalities have been advocated in the care of lymphangiectasis; these modalities include electrodesiccation, laser therapy, sclerotherapy, cryotherapy, and surgical excision. Daily compression through bandaging or hosiery in accessible areas has yielded acceptable results. In addition, laser therapy has also been shown to be an effective treatment. Various types of lasers have been used for this treatment, including the argon, tunable dye and CO&sub2; [1, 18, 19, 20]. There can be recurrences with all these treatments, and some may leave significant scarring. Our patient received treatment using the cryosurgery and some of them were drained and treated with electrocautery. Daily wound care consisted of gentle cleansing with povidone iodine and application of mupirocin ointment. At 8 weeks, the wound had completely re-epitheliazed. The wound was healed without any tissue scar and evidence of recurrence in following 2 months after re-epitheiazation.

Acquired lymphangiectasis is an important complication of radiation therapy and surgical intervention for malignancy and probably not as rare as once believed. Although this lesion has been described as histologically indistinguishable from lymphangioma circumscriptum, we believe these two conditions have true histologic differences in addition to their differing pathophysiology and clinical presentation. Acquired lymphangiectasis is an acquired dilation of lymphatics and can be associated with lymphedema after surgery and/or radiation therapy. Clinicians should be familiar with is presentation and pathogenesis since its complications can be significant. In addition, lesions are often cosmetically undesirable. The treatment is relatively simple, though recurrences are not uncommon.


Dermatology Online Journal

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Additional Resources

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Chylous reflux into abdominal skin simulating lymphangioma circumscriptum in a patient with primary intestinal lymphangiectasia.