title: Congenital lymphedema-lymphangiectasia associated with scrotal angiokeratoma (Fordyce Type) and hearing impairment.
abstract: 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.
authors.affiliation: Department of Paediatrics, University of Catania, Catania, Italy.
authors.forename: Piero
authors.initials: P
authors.lastname: Pavone
authors.forename: Carmelo
authors.initials: C
authors.lastname: Lucenti
authors.forename: Filippo
authors.initials: F
authors.lastname: Fraggetta
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Micali
authors.forename: Gemma
authors.initials: G
authors.lastname: Incorpora
authors.forename: Martino
authors.initials: M
authors.lastname: Ruggieri
mesh_terms: D000293:Adolescent; D000794:Angiokeratoma / Q000150:complications* / Q000473:pathology; D001706:Biopsy; D003241:Consanguinity; D006319:Hearing Loss, Sensorineural / Q000150:complications*; D006801:Humans; D008200:Lymphangiectasis / Q000150:complications* / Q000151:congenital; D008209:Lymphedema / Q000150:complications* / Q000151:congenital; D008297:Male; D010412:Penile Neoplasms / Q000150:complications / Q000473:pathology; D012611:Scrotum / Q000473:pathology; D012878:Skin Neoplasms / Q000150:complications / Q000473:pathology