Nertherton's syndrome.
A case of Netherton's syndrome is reported herein and twenty-four previous cases reviewed and tabulated with respect to age, sex, family history, intelligence, consanguinity, aminoaciduria, atopy, recurrent infections, and IgG. This syndrome is characterized by the presence of trichorrhexis invaginata, a distinctive hair shaft abnormality, and either ichtyosis linearis circumflexa or congenital ichthyosiform erythroderma. Recent investigations have shed light upon the pathogenesis of this disease but the precise structural, biochemical, and genetic abnormalities have not been elucidated.
D002648:Child; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D005260:Female; D006201:Hair Diseases / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D012536:Scalp Dermatoses / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D013577:Syndrome