Angiokeratoma corporis diffusum, idiopathic E75.2

In contrast to angiokeratoma corporis diffusum, this is a rare disease with angiokeratomas of the skin and associated malformations that is not associated with a metabolic disorder. An intellectual disability does not usually occur.

Herd-shaped, blue-blackish vascular lesions occurring in childhood, signs of dysmorphia and in individual cases mental retardation (possibly asphyxia at birth).

Capillaroscopy: Torqued and tufted capillaries of normal size, partly with halos. Small bleedings on individual fingers on both sides, partly avascular fields, capillary density reduced by 6/mm2. Plexus Visibility Score 0, no evidence of vascular changes in internal organs.

No abnormal lysosomes in lesional endothelial cells and fibroblasts in 5 patients examined by electron microscopy.

1. Gerbig AW et al (1995) Angiokeratoma corporis diffusum without associated metabolic disorder. dermatologist 46: 785-788
2. Laxmisha C et al (2003) Cutaneous variant of angiokeratoma corporis diffusum. Dermatol Online J 9: 13