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

Tuesday, June 10, 2008

Congenital Lymphedema-lymphangiectasia Associated With Scrotal Angiokeratoma (Fordyce Type) and Hearing Impairment.

Congenital Lymphedema-lymphangiectasia Associated With Scrotal Angiokeratoma (Fordyce Type) and Hearing Impairment.

J Clin Gastroenterol. 2008 May

Pavone P, Lucenti C, Fraggetta F, Micali G, Incorpora G, Ruggieri M.
Departments of *Paediatrics §Dermatology, University of Catania †Department of Paediatrics, AUSL 3, Caltagirone ‡Pathology Unit, AUSL 3, Cannizzaro Hospital ∥Institute of Neurological Science, National Research Council, Catania, Italy.


Congenital lymphangiectasia-lymphedema is a rare disorder that presents with
edema of the lower half of the body, the face, hands, and scrotum, or with protein-losing enteropathy owing to structural anomalies in the endothelium of the lymphatic system. We describe a biopsy-proven case of severe lymphangiectasia-lymphedema in a 16-year-old boy who was born to consanguineous parents and who, in addition, had mild (20 to 40 dB), early onset, sensorineural deafness and skin abnormalities, consisting of angiokeratomas of the face, hands, and feet, and also a large, localized angiokeratoma of the scrotum and the penis (Fordyce type). Both of the proband's parents had profound (>80 dB), congenital, mixed conductive/sensorineural, nonsyndromic deafness to low-mid frequencies. To the best of our knowledge, this constellation of lymphatic, skin, hearing, and systemic abnormalities seen in the proband has not been previously reported.

PubMed

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