[Familial ectodermal dysplasia with agenesis of the breasts and the external urethral sphincter. Description of a case].
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.
Triolo
O
O
Clinica Ostetrica e Ginecologica, Università di Messina.
Allegra
A
A
Stella Brienza
L
L
De Meo
A
A
Tropea
G
G
D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics; D000328:Adult; D001940:Breast / Q000002:abnormalities*; D004476:Ectodermal Dysplasia / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D014071:Tooth Abnormalities / Q000209:etiology; D014521:Urethra / Q000002:abnormalities* / Q000601:surgery; D014549:Urinary Incontinence / Q000209:etiology / Q000601:surgery
Displasia ectodermica familiare con agenesia delle mammelle e dello sfintere uretrale esterno. Descrizione di un caso.