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Lipoid proteinosis: A case with ophthalmological and psychiatric findings

ABSTRACT Lipoid proteinosis (LP) is an uncommon, recessively inherited disorder. The disease usually has its onset in the newborn period and is manifested by hoarseness. The skin and mucous membrane involvement arises between the first and second year of age. A 14‐year‐old male presented with the co...

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Bibliographic Details
Published in:Journal of dermatology 2006-03, Vol.33 (3), p.215-218
Main Authors: BAHADIR, Sevgi, ÇOBANOĞLU, Ümit, KAPICIOĞLU, Zerrin, KANDIL, Sema Tanrıöver, ÇIMŞIT, Gülseren, SöNMEZ, Müjgan, YAYLI, Savaş
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Language:English
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Summary:ABSTRACT Lipoid proteinosis (LP) is an uncommon, recessively inherited disorder. The disease usually has its onset in the newborn period and is manifested by hoarseness. The skin and mucous membrane involvement arises between the first and second year of age. A 14‐year‐old male presented with the complaint of blistering on various sites of his skin, from the age of 12 months, resulting in scarring. Ophthalmological and psychiatric findings also appeared during the clinical course. The histological findings of skin biopsy included extensive deposits of amorphous eosinophilic material in the papillary dermis. No known therapy exists for LP.
ISSN:0385-2407
1346-8138
DOI:10.1111/j.1346-8138.2006.00049.x