Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria

Br J Dermatol. 2002 Oct;147(4):760-4. doi: 10.1046/j.1365-2133.2002.04827.x.


Angiokeratoma corporis diffusum (ACD), initially considered to be synonymous with Fabry's disease, represents a well-known cutaneous marker of some other lysosomal enzyme disorders. Aspartylglucosaminuria (AGU) is a rare hereditary disorder mostly affecting the Finnish population, with only a few sporadic patients of non-Finnish origin. To date, only three patients with AGU have been reported with cutaneous lesions of ACD. A 19-year-old Spanish woman presented with a 10-year history of progressive ACD affecting the limbs, buttocks and trunk. After the age of 6 years she had developed progressive mental deterioration, coarse facies and macroglossia with a scrotal appearance. Peripheral blood smears showed many vacuolated lymphocytes. Enzyme analysis in cultured fibroblasts revealed a decreased activity of aspartylglucosaminidase. By the age of 31 years the patient had developed a bipolar psychosis, polycystic ovarian disease and severe impairment of cognitive skills. This is the first case of AGU detected in a Spanish patient presenting with cutaneous lesions of ACD. To our knowledge, macroglossia with a scrotal appearance and polycystic ovarian disease have not been reported in previous cases of AGU.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Acetylglucosamine / analogs & derivatives*
  • Acetylglucosamine / urine*
  • Adult
  • Aspartylglucosaminuria
  • Disease Progression
  • Fabry Disease / urine*
  • Female
  • Follow-Up Studies
  • Humans
  • Macroglossia / urine
  • Skin Diseases, Genetic / urine*


  • N-acetylglucosaminylasparagine
  • Acetylglucosamine