P. Calzavarapinton et al., ANGIOKERATOMA CORPORIS DIFFUSUM AND ARTERIOVENOUS-FISTULAS WITH DOMINANT TRANSMISSION IN THE ABSENCE OF METABOLIC DISORDERS, Archives of dermatology, 131(1), 1995, pp. 57-62
Background: A three-generation family with members affected by angioke
ratoma corporis diffusum (ACD) and arteriovenous fistulas of the legs
is described. Our purpose was to investigate possible lysosomal storag
e defects previously described in association with ACD. Objective: Res
ults of physical examination of both affected and unaffected family me
mbers were otherwise normal as was the life span. The inheritance patt
ern of both ACD and arteriovenous fistula traits was autosomal dominan
t, with variable expressivity and incomplete penetrance. Microscopic e
xamination of ACD lesions showed dilated capillaries without vacuolati
on of cells. Ultrastructural studies failed to reveal lysosomal abnorm
alities. Normal levels of alpha-galactosidase, beta-galactosidase, alp
ha-fucosidase, and alpha-sialidase were detected in peripheral blood l
eukocytes and skin fibroblasts. Conclusions: The association of autoso
mal dominant ACD and arteriovenous fistulas might represent a novel. s
yndrome. However, pathogenesis of these lesions remains unknown.