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[Familial ectodermal dysplasia with agenesis of the breasts and the external urethral sphincter. Description of a case].
Minerva Ginecol. 1993 Mar; 45(3):139-42.MG

Abstract

The Authors report a case of athelia and amastia observed in a 28-year-old woman. The association of severe dental alterations, nail dystrophies and irregular cutaneous hyperpigmentation with normal sweating, make it possible to catalogue the anomaly in the hydrotic ectodermal dysplasia, an autosomal dominant hereditary disease. The syndrome, transmitted by the father, is also present in two brothers of the patient: the association of sphincter urethrae agenesis, responsible for urinary incontinence unsuccessful treated with two surgical operations, is to be considered quite fortuitous.

Authors+Show Affiliations

Clinica Ostetrica e Ginecologica, Università di Messina.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

ita

PubMed ID

8332280

Citation

Triolo, O, et al. "[Familial Ectodermal Dysplasia With Agenesis of the Breasts and the External Urethral Sphincter. Description of a Case]." Minerva Ginecologica, vol. 45, no. 3, 1993, pp. 139-42.
Triolo O, Allegra A, Stella Brienza L, et al. [Familial ectodermal dysplasia with agenesis of the breasts and the external urethral sphincter. Description of a case]. Minerva Ginecol. 1993;45(3):139-42.
Triolo, O., Allegra, A., Stella Brienza, L., De Meo, A., & Tropea, G. (1993). [Familial ectodermal dysplasia with agenesis of the breasts and the external urethral sphincter. Description of a case]. Minerva Ginecologica, 45(3), 139-42.
Triolo O, et al. [Familial Ectodermal Dysplasia With Agenesis of the Breasts and the External Urethral Sphincter. Description of a Case]. Minerva Ginecol. 1993;45(3):139-42. PubMed PMID: 8332280.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Familial ectodermal dysplasia with agenesis of the breasts and the external urethral sphincter. Description of a case]. AU - Triolo,O, AU - Allegra,A, AU - Stella Brienza,L, AU - De Meo,A, AU - Tropea,G, PY - 1993/3/1/pubmed PY - 1993/3/1/medline PY - 1993/3/1/entrez SP - 139 EP - 42 JF - Minerva ginecologica JO - Minerva Ginecol VL - 45 IS - 3 N2 - The Authors report a case of athelia and amastia observed in a 28-year-old woman. The association of severe dental alterations, nail dystrophies and irregular cutaneous hyperpigmentation with normal sweating, make it possible to catalogue the anomaly in the hydrotic ectodermal dysplasia, an autosomal dominant hereditary disease. The syndrome, transmitted by the father, is also present in two brothers of the patient: the association of sphincter urethrae agenesis, responsible for urinary incontinence unsuccessful treated with two surgical operations, is to be considered quite fortuitous. SN - 0026-4784 UR - https://wwww.unboundmedicine.com/medline/citation/8332280/[Familial_ectodermal_dysplasia_with_agenesis_of_the_breasts_and_the_external_urethral_sphincter__Description_of_a_case]_ L2 - http://www.diseaseinfosearch.org/result/2437 DB - PRIME DP - Unbound Medicine ER -