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Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome.
Clin Genet. 1982 May; 21(5):297-300.CG

Abstract

An 8-year-old girl with narrow nose, small mouth, maxillary hypoplasia, cleft palate, hypodontia and hypohidrosis is described. Her scalp hair was coarse, dry and wiry. Microscopic examination showed the hair to be twisted at irregular intervals on its long axis, as seen in pili torti. Her mother has the same features; as a child, she had identical hair and is now bald. Both mother and daughter display signs and symptoms of Rapp-Hodgkin's ectodermal dysplasia. The autosomal dominant inheritance of the disease is further supported by the findings in this family.

Authors

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Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7116674

Citation

Silengo, M C., et al. "Distinctive Hair Changes (pili Torti) in Rapp-Hodgkin Ectodermal Dysplasia Syndrome." Clinical Genetics, vol. 21, no. 5, 1982, pp. 297-300.
Silengo MC, Davi GF, Bianco R, et al. Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome. Clin Genet. 1982;21(5):297-300.
Silengo, M. C., Davi, G. F., Bianco, R., Costa, M., DeMarco, A., Verona, R., & Franceschini, P. (1982). Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome. Clinical Genetics, 21(5), 297-300.
Silengo MC, et al. Distinctive Hair Changes (pili Torti) in Rapp-Hodgkin Ectodermal Dysplasia Syndrome. Clin Genet. 1982;21(5):297-300. PubMed PMID: 7116674.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome. AU - Silengo,M C, AU - Davi,G F, AU - Bianco,R, AU - Costa,M, AU - DeMarco,A, AU - Verona,R, AU - Franceschini,P, PY - 1982/5/1/pubmed PY - 1982/5/1/medline PY - 1982/5/1/entrez SP - 297 EP - 300 JF - Clinical genetics JO - Clin Genet VL - 21 IS - 5 N2 - An 8-year-old girl with narrow nose, small mouth, maxillary hypoplasia, cleft palate, hypodontia and hypohidrosis is described. Her scalp hair was coarse, dry and wiry. Microscopic examination showed the hair to be twisted at irregular intervals on its long axis, as seen in pili torti. Her mother has the same features; as a child, she had identical hair and is now bald. Both mother and daughter display signs and symptoms of Rapp-Hodgkin's ectodermal dysplasia. The autosomal dominant inheritance of the disease is further supported by the findings in this family. SN - 0009-9163 UR - https://wwww.unboundmedicine.com/medline/citation/7116674/Distinctive_hair_changes__pili_torti__in_Rapp_Hodgkin_ectodermal_dysplasia_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=1982&volume=21&issue=5&spage=297 DB - PRIME DP - Unbound Medicine ER -