Clinical and scanning electron microscopic findings in a solitary case of Trichorhinophalangeal syndrome type I.
A solitary case of Trichorhinophalangeal syndrome type I is described. Scanning electron microscopic examination revealed alterations of the cuticular pattern and hair shaft structure. These alterations have not been previously described and differ from those seen in other syndromes belonging to the group of the ectodermal dysplasias e.g. the Trichoonytic Hidrotic ectodermal dysplasia, autosomal recessive Anhidrotic ectodermal dysplasia and X-linked Anhidrotic ectodermal dysplasia.
D000328:Adult; D000505:Alopecia / Q000473:pathology*; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000473:pathology; D006197:Hair / Q000648:ultrastructure*; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics / Q000473:pathology*; D009666:Nose / Q000002:abnormalities* / Q000473:pathology; D013577:Syndrome