Loading
TeleDermConsult-logo
  • Recent Submissions
  • Search
  • Diagnosis
  • Quiz
  • Image comparison
  • Submit
  • Teaching Cases
  • Index
  • About

<< Back to Diagnosis Page

Image Number #3016 (Angiokeratoma corporis diffusum)

Site: Abdomen

Diagnosis: Angiokeratoma corporis diffusum

Sex: M

Age: 45

Type: Heine

Submitted By: Stelios Minas

View Full Size Image

Click Here to View Details

Description: Red and blue-black lacunae, whitish veil and erythema.

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.

DermNetNZ   eMedicine   PubMed   Dermatology Online   Archives   JAAD for "Angiokeratoma corporis diffusum"

  • Recent Submissions
  • Search
  • Diagnosis
  • Quiz
  • Image comparison
  • Submit an Image
  • Teaching Cases
  • Index
  • About

Copyright 2022. Dermoscopy Atlas. ALL Rights Reserved.

Change Image