P. Labauge et al., An association between autosomal dominant cerebral cavernomas and a distinctive hyperkeratotic cutaneous vascular malformation in 4 families, ANN NEUROL, 45(2), 1999, pp. 250-254
Cerebral cavernomas (CCMs) are vascular malformations that may be inherited
as an autosomal dominant condition for which a gene, CCM1, was mapped to c
hromosome 7. Poorly defined cutaneous malformations were sometimes describe
d in association with CCMs. During a national survey, 57 French CCM familie
s were studied. Go-occurrence of CCMs and a distinctive cutaneous vascular
malformation was observed in 4 families. Ten individuals belonging to these
families showed similar hyperkeratotic cutaneous capillary venous malforma
tions (HCCVMs). In 3 families, the histology showed orthokeratosis and hype
rkeratosis as well as dilated capillaries in the dermis extending to the hy
podermis and confirmed the diagnosis of NCCVM. Genetic analysis strongly su
pports linkage of these families to the CCM1 locus on chromosome 7. The HCC
VM seems to be a peculiar cutaneous vascular malformation associated with C
CMs. These da ra strongly suggest that HCCVMs and CCMs in these families ar
e due to the same genetic abnormality.