Debré Cutis Laxa Syndrome

Overview

Cutis laxa is a recognizable symptom of heterogenous group of disorders, the majority of them is autosomalrecessive. Cutis laxa as a symptom of diverse syndromes can occur with mental retardation in De Barsy, Debré,Costello and Wiedemann-Rautenstrauch syndrome or together with bone dystrophy in Debré and Costellosyndrome. In majority of syndromic form of cutis laxa with exception of Ehlers-Danlos (mutations in collagen gen)are responsible gene unknown. Author reports the familial case of autosomal recessive syndrome cutis laxa Debré.

Key words:
cutis laxa, De Barsy, Debré, Costello, Wiedemann-Rautenstrauch, Ehlers-Danlos type IV, V, VIIsyndrome, autosomal recessive inheritance