Congenital generalized cutis lava: 5 cases

Background. Congenital cutis laxa is an exceptional condition. No large sca le series has been reported in the French literature. We report 5 cases obs erved between 1993 and 1997. Patients and methods. Five children with a morphotype compatible with conge nital generalized cutis laxa were examined. A family study, complete viscer al workup and skin biopsy with standard histology, orceine coloration and h istomorphometric analysis of the collagen and elastic fibers of the dermis were performed. Karyotype and copper metabolism (cupremia and ceruroplasmin emia) were available in 3 children. Results. The diagnosis was clinical and proven histologically by orceine co loration 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-Danl os type IX phenotype. The karyotype war normal in 3/3 children, in agreemen t with the absence in these three children of marfanoid cutis laxa phenotyp e. Patients n(o) 2, 3, 4 and 5 had common features: probable autosomal rece ssive 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 cut is laxa but with no visceral component (autosomal recessive inheritance wit h variable expression). Patients n(o) 3, 4 and 5 had a severe multiple malf ormative syndrome with facial dysmorphism, growth retardation, unexplained digestive disorders and psychomotor retardation. Discussion. Our series of 5 patients and data in the literature confirm tha t 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 no 3 reported in other cases in the literatur e.