Your browser doesn't support javascript.
loading
Congenital lymphedema-lymphangiectasia associated with scrotal angiokeratoma (Fordyce Type) and hearing impairment.
Pavone, Piero; Lucenti, Carmelo; Fraggetta, Filippo; Micali, Giuseppe; Incorpora, Gemma; Ruggieri, Martino.
Afiliação
  • Pavone P; Department of Paediatrics, University of Catania, Catania, Italy.
J Clin Gastroenterol ; 42(6): 715-9, 2008 Jul.
Article em En | MEDLINE | ID: mdl-18496391
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.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Perda Auditiva Neurossensorial / Angioceratoma / Linfangiectasia / Linfedema Tipo de estudo: Risk_factors_studies Limite: Adolescent / Humans / Male Idioma: En Ano de publicação: 2008 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Perda Auditiva Neurossensorial / Angioceratoma / Linfangiectasia / Linfedema Tipo de estudo: Risk_factors_studies Limite: Adolescent / Humans / Male Idioma: En Ano de publicação: 2008 Tipo de documento: Article