| Cutaneous findings in a new syndrome of autosomal recessive ectodermal dysplasia with corkscrew hairs. | |
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MedLine Citation:
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PMID: 1479096 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: The association of hair shaft abnormalities with the phenotypic findings of a new, distinct form of an autosomal recessive syndrome of ectodermal dysplasia was present in 27 patients from seven families. OBJECTIVE: Our purpose was to present the cutaneous findings that characterize this syndrome with particular attention given to the hair shaft abnormalities. METHODS: Multiple field visits were used to gather data on phenotypic findings and prospectively evaluate their prevalence. RESULTS: Corkscrew hair, an exaggeration of pili torti, represents the most striking feature of this syndrome. Prominent cutaneous findings include scalp keloids, follicular plugging, keratosis pilaris, xerosis, eczema, palmoplantar keratodermia, cutaneous syndactyly, onychodysplasia, and conjunctival neovascularization. Other features include typical facies, anteverted pinnae, malar hypoplasia, cleft lip and palate, and dental abnormalities. CONCLUSION: A syndrome characterized by pili torti and corkscrew hairs, previously reported in only one patient, can be recognized. |
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Authors:
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W Abramovits-Ackerman; T Bustos; V Simosa-Leon; L Fernandez; M Ramella |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of the American Academy of Dermatology Volume: 27 ISSN: 0190-9622 ISO Abbreviation: J. Am. Acad. Dermatol. Publication Date: 1992 Dec |
Date Detail:
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Created Date: 1993-02-08 Completed Date: 1993-02-08 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7907132 Medline TA: J Am Acad Dermatol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 917-21 Citation Subset: IM |
Affiliation:
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Family Practice (Dermatology), University of Texas Health Sciences Center, San Antonio. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Aged Child Child, Preschool Ectodermal Dysplasia / genetics* Female Hair / abnormalities*, pathology Humans Infant Male Middle Aged Prospective Studies Syndrome |
| Comments/Corrections | |
Comment In:
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J Am Acad Dermatol. 1994 Feb;30(2 Pt 1):289-90
[PMID:
8141890
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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