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Pili torti and onychodysplasia. Report of a previously undescribed hidrotic ectodermal dysplasia.
Dermatologica. 1991; 182(3):184-7.D

Abstract

Ectodermal dysplasias are a large and heterogeneous groups of clinically and genetically distinct syndromes. We studied a family suffering from dystrophies of the distal part of the nails and trichodysplasia. Scalp, beard, pubic and axillary hair were broken off leaving a stubble 1-10 mm in length. Eyebrows, eyelashes and body hair were completely absent. Serum levels of copper and plasma levels of amino acids were within the normal range. Inheritance was autosomal recessive. Previous reports of ectodermal dysplasias and other complex syndromes with pili torti are reviewed.

Authors+Show Affiliations

Department of Dermatology, Spedali Civili, Brescia, Italy.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1879585

Citation

Calzavara-Pinton, P, et al. "Pili Torti and Onychodysplasia. Report of a Previously Undescribed Hidrotic Ectodermal Dysplasia." Dermatologica, vol. 182, no. 3, 1991, pp. 184-7.
Calzavara-Pinton P, Carlino A, Benetti A, et al. Pili torti and onychodysplasia. Report of a previously undescribed hidrotic ectodermal dysplasia. Dermatologica. 1991;182(3):184-7.
Calzavara-Pinton, P., Carlino, A., Benetti, A., & De Panfilis, G. (1991). Pili torti and onychodysplasia. Report of a previously undescribed hidrotic ectodermal dysplasia. Dermatologica, 182(3), 184-7.
Calzavara-Pinton P, et al. Pili Torti and Onychodysplasia. Report of a Previously Undescribed Hidrotic Ectodermal Dysplasia. Dermatologica. 1991;182(3):184-7. PubMed PMID: 1879585.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pili torti and onychodysplasia. Report of a previously undescribed hidrotic ectodermal dysplasia. AU - Calzavara-Pinton,P, AU - Carlino,A, AU - Benetti,A, AU - De Panfilis,G, PY - 1991/1/1/pubmed PY - 1991/1/1/medline PY - 1991/1/1/entrez SP - 184 EP - 7 JF - Dermatologica JO - Dermatologica VL - 182 IS - 3 N2 - Ectodermal dysplasias are a large and heterogeneous groups of clinically and genetically distinct syndromes. We studied a family suffering from dystrophies of the distal part of the nails and trichodysplasia. Scalp, beard, pubic and axillary hair were broken off leaving a stubble 1-10 mm in length. Eyebrows, eyelashes and body hair were completely absent. Serum levels of copper and plasma levels of amino acids were within the normal range. Inheritance was autosomal recessive. Previous reports of ectodermal dysplasias and other complex syndromes with pili torti are reviewed. SN - 0011-9075 UR - https://wwww.unboundmedicine.com/medline/citation/1879585/Pili_torti_and_onychodysplasia__Report_of_a_previously_undescribed_hidrotic_ectodermal_dysplasia_ L2 - https://www.diseaseinfosearch.org/result/5761 DB - PRIME DP - Unbound Medicine ER -