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[Pili torti et canaliculi in ectodermal dysplasia].
Hautarzt. 1994 Jun; 45(6):372-7.H

Abstract

Uncombable hair is a heterogeneous symptom with a partially genetic background. In order to make an exact diagnosis, it is mandatory to recognize associated abnormalities, do pedigree analyses, and perform scanning electron microscopic studies of the hair. In a case of ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome and in a patient with familial tricho-odonto-onychial ectodermal dysplasia with syndactyly, scanning electron microscopy demonstrated pili torti et canaliculi, helicotrichia and cuticular dystrophy. Congenital pili torti et canaliculi must be differentiated from pili torti and from pili trianguli et canaliculi ("cheveux incoiffables"), inasmuch as they may present in hypotrichosis congenita hereditaria of Marie-Unna or as part of complex ectodermal dysplasia syndromes with clefting of the lip/palate and/or limb defects. It is noteworthy that some of those patients show a dysmorphic facies and an atopic constitution in addition to the aforementioned abnormalities. We discuss the possible relationship of these syndromes to each other, with special respect to the Hay-Wells or ankyloblepharon, ectodermal dysplasia, cleft lip/palate (AEC) and the Rapp-Hodgkin (ectodermal dysplasia, midfacial hypoplasia, cleft lip/palate) syndromes.

Authors+Show Affiliations

Dermatologische Klinik, Universitätsspital Zürich.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article
Review

Language

ger

PubMed ID

8071068

Citation

Trüeb, R M., et al. "[Pili Torti Et Canaliculi in Ectodermal Dysplasia]." Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, vol. 45, no. 6, 1994, pp. 372-7.
Trüeb RM, Spycher MA, Schumacher F, et al. [Pili torti et canaliculi in ectodermal dysplasia]. Hautarzt. 1994;45(6):372-7.
Trüeb, R. M., Spycher, M. A., Schumacher, F., & Burg, G. (1994). [Pili torti et canaliculi in ectodermal dysplasia]. Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 45(6), 372-7.
Trüeb RM, et al. [Pili Torti Et Canaliculi in Ectodermal Dysplasia]. Hautarzt. 1994;45(6):372-7. PubMed PMID: 8071068.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Pili torti et canaliculi in ectodermal dysplasia]. AU - Trüeb,R M, AU - Spycher,M A, AU - Schumacher,F, AU - Burg,G, PY - 1994/6/1/pubmed PY - 1994/6/1/medline PY - 1994/6/1/entrez SP - 372 EP - 7 JF - Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete JO - Hautarzt VL - 45 IS - 6 N2 - Uncombable hair is a heterogeneous symptom with a partially genetic background. In order to make an exact diagnosis, it is mandatory to recognize associated abnormalities, do pedigree analyses, and perform scanning electron microscopic studies of the hair. In a case of ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome and in a patient with familial tricho-odonto-onychial ectodermal dysplasia with syndactyly, scanning electron microscopy demonstrated pili torti et canaliculi, helicotrichia and cuticular dystrophy. Congenital pili torti et canaliculi must be differentiated from pili torti and from pili trianguli et canaliculi ("cheveux incoiffables"), inasmuch as they may present in hypotrichosis congenita hereditaria of Marie-Unna or as part of complex ectodermal dysplasia syndromes with clefting of the lip/palate and/or limb defects. It is noteworthy that some of those patients show a dysmorphic facies and an atopic constitution in addition to the aforementioned abnormalities. We discuss the possible relationship of these syndromes to each other, with special respect to the Hay-Wells or ankyloblepharon, ectodermal dysplasia, cleft lip/palate (AEC) and the Rapp-Hodgkin (ectodermal dysplasia, midfacial hypoplasia, cleft lip/palate) syndromes. SN - 0017-8470 UR - https://wwww.unboundmedicine.com/medline/citation/8071068/[Pili_torti_et_canaliculi_in_ectodermal_dysplasia]_ L2 - http://www.diseaseinfosearch.org/result/2437 DB - PRIME DP - Unbound Medicine ER -