Lipoid proteinosis; a clinical, pathological and genetic study.
The clinical, pathological, and genetic findings in two closely related families in which a number of cases of lipoid proteinosis occurred are described. The necropsy findings, particularly the neuropathological aspects, in a patient who died from a coincidental pancreatic carcinoma are detailed. The genetic aspects are reviewed.
D000368:Aged; D001921:Brain / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D005260:Female; D006624:Hippocampus / Q000473:pathology; D006801:Humans; D007494:Ireland; D007830:Larynx / Q000473:pathology; D008064:Lipidoses / Q000235:genetics*; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012867:Skin / Q000473:pathology