Site: Abdomen
Diagnosis: Angiokeratoma corporis diffusum
Sex: M
Age: 45
Type: Heine
Submitted By: Stelios Minas
Description: Red to blue-black papule varying in size with surfaces scales
History: Angiokeratoma corporis diffusum (Fabry’s disease) is an X-linked inherited disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase. This inborn error of metabolism results in unremitting deposition of neural glycosphingolipids in the lysosomes of the vascular endothelium; in fibroblasts; and in pericytes of the dermis, heart, kidneys, and autonomic nervous system. The Fabry disease (FD) gene is now known as the GLA gene.
History :
This 45-years old man developed a red to blue-black papule varying in size with surface scales since childhood. Great variation in lesion size making patients appear as a "peppered with buckshot." No metabolic disease or lysosomal defect was observe in this case.
This is a cutaneous variant of Angiokeratoma corporis diffusum which has been described as a discrete clinical category of disease occurring only in the skin in persons with no metabolic disease or lysosomal defect.
Laser therapy was recommended with pulse dye laser (585nm).
Dermoscopic description: Red and blue-black lacunae, whitish veil and erythema.