[Angiokeratoma corporis diffusum without associated metabolic disorder]

In a 22-year-old woman with mental impairment and some signs of dysmorphism, numerous angiokeratomas developed, starting when she was 3 years old and resulting in the clinical picture of angiokeratoma corporis diffusum. Extensive laboratory analyses did not disclose any associated metabolic disorder,and electron microscopy failed to demonstrate lysosomal inclusions. Therefore, this patient can be classified as one of the rare cases of angiokeratoma corporis diffusum without associated metabolic disease (idiopathic angiokeratoma corporis diffusum).