A previously undescribed ectodermal dysplasia of the tricho-odonto-onychial subgroup in a family

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dc.contributor.authorTsakalakos N.
dc.contributor.authorJordaan F.H.
dc.contributor.authorTaljaard J.J.F.
dc.contributor.authorHough S.F.
dc.date.accessioned2011-05-15T16:15:37Z
dc.date.available2011-05-15T16:15:37Z
dc.date.issued1986
dc.description.abstractWe encountered two family members with a previously undescribed pure ectodermal dysplasia. The propositus exhibited hypotrichosis, hypodontia, focal linear dermal hypoplasia on the tip of her nose, irregular hyperpigmentation on her back, bilateral amastia and athelia, and mild nerve hearing loss. Her mother displayed similar characteristics, except for present, although hypoplastic, areolae and nipples. Both mother and daughter appeared to be clinically euhidrotic. Despite a comprehensive endocrine workup, the only abnormality detected was a suboptimal cortisol response to hypoglycemia in the propositus. Five other family members seemed to be affected. The pattern of inheritance appeared to be affected. The pattern of inheritance appeared to be autosomal-dominant, with variable penetrance and expressivity.
dc.description.versionArticle
dc.identifier.citationArchives of Dermatology
dc.identifier.citation122
dc.identifier.citation9
dc.identifier.issn0003987X
dc.identifier.urihttp://hdl.handle.net/10019.1/13414
dc.subjectamastia
dc.subjectathelia
dc.subjectauditory system
dc.subjectautosomal dominant inheritance
dc.subjectectodermal dysplasia
dc.subjecthearing impairment
dc.subjecthuman
dc.subjecthyperpigmentation
dc.subjecthypodontia
dc.subjecthypotrichosis
dc.subjectnose apex
dc.subjectpriority journal
dc.subjectskin defect
dc.subjecttooth
dc.subjectAbnormalities, Multiple
dc.subjectAdolescent
dc.subjectAlopecia
dc.subjectBreast
dc.subjectCase Report
dc.subjectEctodermal Dysplasia
dc.subjectFemale
dc.subjectHuman
dc.subjectHypotrichosis
dc.subjectMiddle Age
dc.subjectNails
dc.subjectPedigree
dc.subjectSupport, Non-U.S. Gov't
dc.subjectTooth Abnormalities
dc.titleA previously undescribed ectodermal dysplasia of the tricho-odonto-onychial subgroup in a family
dc.typeArticle
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