Information on all the types of lymphangiectasia, including intestinal, pulmonary, renal, cutaneous (skin). Sponsored by Pat O'Connor

Friday, February 24, 2012

Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression.

Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression.


Sept 2011

Source

University Hospital of Leuven, Herestraat 49, 3000, Leuven, Belgium, gwendolyn.debruyn@uzleuven.be.

Abstract


Keywords Non-immune hydrops fetalis – Pulmonary lymphangiectasia – Lymphedema syndromes – FOXC2 mutation

Non-immune hydrops fetalis may find its origin within genetically determined lymphedema syndromes, caused by mutations in FOXC2 and SOX-18. We describe a newborn girl, diagnosed with non-immune hydrops fetalis at a gestational age of 30 weeks. Family history revealed the presence of an autosomal dominant late-onset form of lymphedema of the lower limbs in her father, associated with an aberrant implantation of the eyelashes in some individuals.


The newborn, hydropic girl suffered from severe pulmonary lymphangiectasia, resulting in terminal respiratory failure at the age of 3 months. Genetic analysis in both the father and the newborn girl demonstrated a heterozygous FOXC2 mutation, i.e., c.939C>A, p.Tyr313X. Her two older sisters are currently asymptomatic and the parents decided not to test them for the FOXC2 mutation.


Conclusion: Patients with a mutation in the FOXC2 transcription factor usually show lower limb lymphedema with onset at or after puberty, together with distichiasis. However, the eye manifestations can be very mild and easily overlooked. The association between FOXC2 mutation and neonatal hydrops resulting in terminal respiratory failure is not reported so far. Therefore, in sporadic patients diagnosed with non-immune hydrops fetalis, lymphangiogenic genes should be systematically screened for mutations. In addition, all cases of fetal edema must prompt a thorough analysis of the familial pedigree, in order to detect familial patterns and to facilitate adequate antenatal counseling.


Springerlink

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Thursday, February 16, 2012

Intestinal lymphangiectasia associated with recurrence of histiocytosis X.

Intestinal lymphangiectasia associated with recurrence of histiocytosis X.


Sept 2011

Source

Centre for Alimentary Studies, 5/F Century Square, 1 D'Aguilar Street, Central, Hong Kong SAR, China. bckhui@gmail.com

Abstract


K e y w o r d s : h i s t i o c y t o s i s X , i n t e s t i n a l
lymphangiectasia, secondary cause

Intestinal lymphangiectasia may occur as a primary congenital disorder or a secondary disorder. Secondarylymphangiectasia could be associated with diseases such as abdominal carcinoma, retroperitoneal fibrosis or chronic pancreatitis. This is the first reported case of intestinal lymphangiectasia associated with recurrent histiocytosis X. This case report illustrates the need for more prospective, well-designed studies to determine the natural history and outcome of intestinal lymphangiectasia in the duodenum. Hopefully, these studies will also help clinicians identify which group of patients with intestinal lymphangiectasia in the duodenum is more likely to have a secondary cause.


SMJ

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Sunday, February 12, 2012

Primary intestinal lymphangiectasia diagnosed by capsule endoscopy and double balloon enteroscopy.

Primary intestinal lymphangiectasia diagnosed by capsule endoscopy and double balloon enteroscopy.


Nov 2011

Source

Tak Geun Oh, Joo Won Chung, Hee Man Kim, Jung Yeob Park, Si Young Song, Division of Gastroenterology, Department of Internal Medicine, Yonsei Institute of Gastroenterology, Yonsei University College of Medicine, Seoul 120-752, South Korea.

Abstract


Primary intestinal lymphangiectasia (PIL) is a rare disorder characterized by dilated intestinal lymphatics and the development of protein-losing enteropathy. Patients with PIL develop hypoalbuminemia, hypocalcemia, lymphopenia and hypogammaglobulinemia, and present with bilateral lower limb edema, fatigue, abdominal pain and diarrhea. Endoscopy reveals diffusely elongated, circumferential and polypoid mucosae covered with whitish enlarged villi, all of which indicate intestinal lymphangiectasia. Diagnosis is confirmed by characteristic tissue pathology, which includes dilated intestinal lymphatics with diffusely swollen mucosa and enlarged villi. The prevalence of PIL has increased since the introduction of capsule endoscopy. The etiology and prevalence of PIL remain unknown. Some studies have reported that several genes and regulatory molecules for lymphangiogenesis are related to PIL. We report the case of a patient with PIL involving the entire small bowel that was confirmed by capsule endoscopy and double-balloon enteroscopy-guided tissue pathology who carried a deletion on chromosome 4q25. The relationship between this deletion on chromosome 4 and PIL remains to be investigated.


PubMedCentral

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Thursday, February 09, 2012

Lymphangiectasia of the vulva, treatment with CO 2 laser.

Lymphangiectasia of the vulva, treatment with CO 2 laser.


Jan. 2012


Department of Dermatology, Charles Nicolle Hospital of Tunis, University of Medicine, Tunis El Manar, Tunisie,

Correspondence Address:
Myriam Ben Hamida
Service de Dermatologie,Hôpital Charles Nicolle, Bureau Entrées Boulevard du 9 Avril 1006, BAB SOUIKA TUNIS, Tunisie

Sir,

Lymphangiectasia is a pathological dilatation of lymphatic vessels. Vulvar presentation is uncommon and may be misdiagnosed as genital warts, molluscum contagiosum, or tuberculosis verrucosa cutis. We present here the first case reported of vulval lymphangiectasia associated with a benign pelvic tumor.

A 55-year-old woman, presented with vulvar itching associated with condyloma-like lesions, starting 2 years ago. There was a medical history of hypertension and dyslipidemia under treatment. There were no histories of sexually transmitted disease, filariasis, tuberculosis, trauma, Crohn's disease, pelvic surgery, or irradiation therapy. The clinical examination revealed a diffuse induration with verrucous appearance of both labia major, with overlying papulovesicular lesions [Figure 1]. There was no inguinal lymphadenopathy. Histological examination revealed, the presence in the papillary dermis, of multiple dilated lymphatic vessels, lined by a thin wall comprising of endothelial cells with valves. Acanthosis was also present in the epidermis [Figure 2]. The diagnosis of vulval lymphangiectasia was proposed. An extensive search for an etiology of this disease in our patient was initiated. The searches for tuberculosis and for a sexually transmitted disease (especially Chlamydia serology) were negative. Abdominopelvic ultrasound revealed a large polymyomatous uterus, with multiple interstitial myomas measuring from 2 to 8 cm of diameter. A pelvic magnetic resonance imaging (MRI) was performed and confirmed the presence of large myomas, without deep pelvic extension of lymphangioma. Because there were no other obvious causes, we considered that this benign pelvic tumor was the cause of the impaired lymph flow inducing lymphangiectasia. Surgical treatment represented by total hysterectomy was performed. For her vulval lymphangiectasia, a noninvasive therapy with CO 2 -laser vaporization was indicated. The continuous wave CO 2 laser was used in defocused mode with a 2-mm spot size. The patient had two laser sessions at 4 weeks interval, with a power of 10 W. The evolution was favorable with a good cosmetic result and no signs of recurrence after 15-month follow-up We report here an original case of vulval lymphangiectasia caused by a large polymyomatous uterus. Lymphangiectasia is also called acquired lymphangioma circumscriptum (LC) or secondary lymphangiomas. Requena and Sangueza [1] consider that this disorder results from obstruction of previously normal lymphatics, unlike congenital LC in which dilated superficial lymphatics are a consequence of transmitted pressure from a congenital malformation of deep dermal lymphatics.

Clinical and histological findings of lymphangiectasia and congenital LC of the vulva are very similar. However, history of congenital or early onset of the disease and the presence on histological examination of deeper lymphatic abnormalities in the reticular dermis and subcutaneous are suggestive of LC. [2]

For our patient, the late onset of the disease and the absence of deep lymphatic extension on histological examination and on pelvic MRI were suggestive of lymphangiectasia of the vulva.

In the literature, vulval lymphangiectasia occurred after a carcinoma of the cervix uteri managed with surgery or with radiation therapy. Other predisposing conditions reported were urogenital tuberculosis, Crohn's disease, recurrent bacterial infections, or radical pelvic surgery of non-gynecologic tumors. [3] In all these cases, lymphangiectasia was induced by obstruction of previous normal lymphatics. To the best of our knowledge, it is the first case of vulval lymphangiectasia associated with a benign pelvic tumor. We propose that these large myomas were probably the cause of the impaired lymph flow inducing lymphangiectasia.

There is no consensus about the treatment of lymphangiectasia. Treatment must provide a good cosmetic result, prevent recurrence, and protect from infections. The traditional treatment, surgical removal, is an effective treatment but rapid relapses often occur. Other treatment options include laser vaporization, sclerotherapy, cryotherapy, and electrocoagulation. Several reports have been published of successful CO 2 laser ablation of lymphangiectasia, and it represents the main alternative to surgery. [2] The CO 2 laser is described as effective in both LC and lymphangiectasia; however, focal recurrence are more frequently described in LC, which may reflect the persistence of deeper lymphatic abnormalities not destroyed by laser. [2] CO 2 laser ablation is generally well tolerated but some authors noted pain and the development of vulva keloid. In our patient, a conservative treatment with CO 2 -laser therapy was indicated. This treatment was well tolerated with a good cosmetic result and no recurrence after a follow-up of 15 months.

Malignant transformation of congenital LC has been reported in some cases from the literature. Cases of lymphangiosarcoma were described on sites of LC previously treated with extensive X-ray therapy. [4]

Cases of squamous-cell carcinoma have also been reported. [5] These complications have never been reported with lymphangiectasia; nevertheless, a close follow-up of patients with vulval lymphangiectasia is advisable.

Full text with Diagnostic Images

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