angiokeratoma corporis diffusum

Angiokeratoma corporis diffusum refers to Fabry's disease, but this is usually considered a distinct condition.

Gehler(1981) described affected brother and sister in a consanguineous Italian sibship; one of the patients showed angiokeratoma corporis diffusum.

Fabry disease (i.e. angiokeratoma corporis diffusum)

Yoshida (1991) and Vargas-Diez et al. (2002) also described the occurrence of angiokeratoma corporis diffusum in 2 Japanese patients and 1 Spanish patient, respectively, with aspartylglucosaminuria.

Fabry disease (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency) is a rare X-linked (inherited) lysosomal storage disease, which can cause a wide range of systemic symptoms.