A case of hyalinosis cutis et mucosae (lipoid proteinosis of Urbach and Wiethe) with common ancestors in four remote generations.
We report a case of hyalinosis cutis et mucosae, a rare disorder of hyalin deposition in skin and mucous membranes, in a 27-year-old male, whose coefficient of inbreeding was 0-0106 due to seven common ancestors, including an aunt of an early American president, in the eight preceding generations.
D000328:Adult; D003241:Consanguinity; D005808:Genes, Recessive; D006801:Humans; D006818:Hyalin / Q000378:metabolism; D007818:Laryngeal Diseases / Q000235:genetics; D008064:Lipidoses / Q000235:genetics*; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000235:genetics*; D008074:Lipoproteins / Q000378:metabolism; D008297:Male; D009092:Mucous Membrane / Q000378:metabolism; D010375:Pedigree; D012867:Skin / Q000378:metabolism; D013577:Syndrome
D008074:Lipoproteins