[Schöpf syndrome. Clinical, genetic and lipid biochemical studies].
Schöpf syndrome is an unusual genodermatosis categorized within the heterogeneous group of ectodermal dysplasias. Since the first description of this syndrome in 1971, ten further cases have been published. The diagnostic features include eyelid cysts, hypotrichosis, hypodontia, nail dystrophy, and keratosis of palms and soles. When the signs and symptoms noted in all published cases are taken together, considerable clinical variability in the combinations and in the age of onset is observed. The frequent occurrence of benign and malignant tumours of the palms and soles deserves particular attention. Schöpf syndrome is probably not as rare as is commonly believed. A woman with typical clinical features of this syndrome is presented. Schöpf syndrome is assumed to be passed on as an autosomal recessive trait; however the present and two further case reports are not compatible with this mode of inheritance, because family members in several generations are affected. Schöpf syndrome is probably a heterogeneous disorder. Lipid biochemical investigations of stratum corneum by high-performance thin-layer chromatography (HPTLC) show a decrease in the ceramide fraction and an increase in free fatty acids as a percentage of total lipids. The pathophysiological significance of these findings needs further investigation.
Küster
W
W
Hautklinik Heinrich-Heine-Universität Düsseldorf.
Hammerstein
W
W
D000328:Adult; D002518:Ceramides / Q000378:metabolism; D002851:Chromatography, High Pressure Liquid; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D050356:Lipid Metabolism; D010375:Pedigree; D012867:Skin / Q000378:metabolism; D013261:Sterols / Q000378:metabolism; D013577:Syndrome
D002518:Ceramides; D005227:Fatty Acids; D013261:Sterols
Das Schöpf-Syndrom. Klinische, genetische und lipidbiochemische Untersuchungen.