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Lipoid proteinosis in three children
Author(s) -
Böhme M,
Wahlgren CF
Publication year - 1996
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1996.tb14203.x
Subject(s) - medicine , palpebral fissure , hyaline , tongue , scars , pathology , dermatology , mucous membrane , anatomy
We report on three children with lipoid proteinosis, an autosomal recessive disorder characterized by the deposition of hyaline‐like material in the skin, mucous membranes and other tissues. All cases had characteristic hoarseness. Other symptoms observed were infiltrated whitish plaques and pock‐like scars on the face, papules on the palpebral margins, and infiltrates in the mucous membranes of the lower lip and tongue. Two of the children were siblings whose parents were first cousins.