Lipoid proteinosis: report of three familial cases

Lipoid proteinosis is a rare autosomal recessive disorder; it presents in early childhood with hoarseness, skin infiltration and thickening with beaded papules on eyelid margins, and facial acneiform or pock-like scars. Although 250 cases have been reported until now, the occurrence of disease in si...

Full description

Saved in:
Bibliographic Details
Published in:Dermatology online journal 2006, Vol.12 (1), p.16-16
Main Authors: Ehsani, Amir H, Ghiasi, Maryam, Robati, Reza Mahmoud
Format: Article
Language:English
Subjects:
Adolescent
Adult
Child
Cicatrix - etiology
Eyelids - pathology
Female
Forehead
Hoarseness - etiology
Humans
Lipoid Proteinosis of Urbach and Wiethe - complications
Lipoid Proteinosis of Urbach and Wiethe - genetics
Lipoid Proteinosis of Urbach and Wiethe - pathology
Male
Skin - pathology
Skin Diseases - etiology
Tongue - pathology
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Lipoid proteinosis is a rare autosomal recessive disorder; it presents in early childhood with hoarseness, skin infiltration and thickening with beaded papules on eyelid margins, and facial acneiform or pock-like scars. Although 250 cases have been reported until now, the occurrence of disease in siblings is very rare. We report three familial cases of lipoid proteinosis involving a brother and sister and their nephew.
ISSN:1087-2108
1087-2108
DOI:10.5070/D37ZZ4K01R