[Congenital generalized cutis laxa: 5 cases].

BACKGROUND

Congenital cutis laxa is an exceptional condition. No large scale series has been reported in the French literature. We report 5 cases observed between 1993 and 1997.

PATIENTS AND METHODS

Five children with a morphotype compatible with congenital generalized cutis laxa were examined. A family study, complete visceral workup and skin biopsy with standard histology, orceine coloration and histomorphometric analysis of the collagen and elastic fibers of the dermis were performed. Karyotype and copper metabolism (cupremia and ceruloplasminemia) were available in 3 children.

RESULTS

The diagnosis was clinical and proven histologically by orceine coloration of skin biopsies in all cases. There were discrete ultrastructure anomalies in the pure cutaneous form expressed in case n(o) 1 with possible autosomal dominant inheritance. Cupremia and ceruloplasminemia were normal in the 3 children explored; this corresponds to absence of the Elhers-Danlos type IX phenotype. The karyotype was normal in 3/3 children, in agreement with the absence in these three children of marfanoid cutis laxa phenotype. Patients n(o) 2, 3, 4 and 5 had common features: probable autosomal recessive inheritance and severe prognosis. Patient n(o) 2 died at the age of 3 weeks and had severe pulmonary emphysema. This child's sister also had cutis laxa but with no visceral component (autosomal recessive inheritance with variable expression). Patients n(o) 3, 4 and 5 had a severe multiple malformative syndrome with facial dysmorphism, growth retardation, unexplained digestive disorders and psychomotor retardation.

DISCUSSION

Our series of 5 patients and data in the literature confirm that primary cutis laxa is a heterogeneous group of conditions both clinically and genetically. The anomalies associated in patients n(o) 3, 4 and 5 were not directly related to anomalous elastic tissue as was also the case for the craniostenosis in patient n(o) 3 reported in other cases in the literature.