Malformations capillaires associées à un angiome caverneux cérébral

Abstract

Capillary malformations such as benign hereditary telangiectasia are a familial affection, of dominant autosomal transmission, characterized by the progressive development of cutaneous telangiectasia during childhood. The association with cutaneous vascular, arteriovenous or lymphatic malformations is exceptional and has only recently been described.A 5 year-old girl presented with widespread erythematous, predominantly telangiectasic, congenital and acquired macules when she was one year-old. Her history was marked by right temporal cerebral hemorrhage at the age of 4, revealing a right temporal cavernoma-like vascular malformation. The familial history of telangiectasic macules and clinical and histological examination led to the diagnosis of benign hereditary telangiectasia.This case report raises doubt on the exclusively cutaneous nature of benign hereditary telangiectasic-type capillary malformations. Moreover, it illustrates the possibility of a particular clinical form of this affection, associating classical telangiectasia and post-wine stain-type macules. The recent localization of the locus implied in this affection in 5q14 in the same chromosomic space as the CMC1 locus incriminated in familial capillary malformations, suggests that these two affections are in fact phenotype variations of a single and same clinical entity.