Lipoid proteinosis.
Twenty-eight cases of lipoid proteinosis have been identified in a highly inbred White-Khoikhoi ("Hottentot") hybrid community living in Namaqualand, South Africa. The clinical manifestations of the disease are described, and a genetic analysis is presented. Genealogic studies have shown that the autosomal mutant gene for lipoid proteinosis was introduced into South Africa by a German settler and his sister in the mid-17th century. A great-grandson of that settler carried the gene to Namaqualand, where several generations of inbreeding have produced numerous affected homozygotes.
D000293:Adolescent; D000328:Adult; D000505:Alopecia / Q000209:etiology; D002114:Calcinosis / Q000209:etiology; D002349:Carpal Tunnel Syndrome / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004569:Electroencephalography; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006818:Hyalin / Q000032:analysis; D007767:Lacrimal Duct Obstruction / Q000209:etiology; D008064:Lipidoses; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000150:complications / Q000235:genetics / Q000473:pathology; D008297:Male; D010375:Pedigree; D012466:Salivary Gland Diseases / Q000209:etiology; D012867:Skin / Q000032:analysis / Q000473:pathology; D012874:Skin Diseases, Infectious / Q000150:complications; D005719:gamma-Globulins / Q000032:analysis
D005719:gamma-Globulins