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Lipoid Proteinosis: Report of Four Siblings and Brief Review of the Literature
Author(s) -
Nanda Arti,
Alsaleh Qasem A.,
AlSabah Humoud,
Ali Abdulla M. A.,
Anim Jehoram Tei
Publication year - 2001
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1046/j.1525-1470.2001.018001021.x
Subject(s) - medicine , hyaline , pathology , dermatology
Lipoid proteinosis (Urbach–Wiethe disease) is a rare autosomal recessive disorder associated with deposition of periodic acid‐Schiff (PAS)‐positive hyaline material in various tissues including skin, mucous membranes, and internal organs. A family is reported in which four siblings (two boys and two girls) born to nonconsanguineous parents had lipoid proteinosis. All had the characteristic hoarseness of voice and three had skin lesions. The diagnosis was confirmed by the presence of typical features on light and electron microscopy.