[Lysosomal storage diseases with angiokeratoma corporis diffusum].

There are 6 well known lysosomal storage diseases which produce angiokeratoma corporis diffusum clinically. The clinical, histological, ultrastructural and biochemical characteristics are discussed. The best known angiokeratoma will be observed in patients with Fabry disease. Angiokeratoma in Fabry disease, however, may be much fewer than thought previously. Fucosidosis and galactosialidosis are next well known diseases to produce angiokeratoma. Approximately 50% of patients with these diseases have angiokeratoma. Recently reported Kanzaki disease, beta-mannosidosis and aspartylglucosaminuria will show angiokeratoma more or less extensively. Ultrastructurally Fabry disease only produce electron dense deposits in lysosomes and others electron lucent. These are summarized in Table 1 in the text.
AuthorsT Kanzaki
JournalNihon rinsho. Japanese journal of clinical medicine (Nihon Rinsho) Vol. 53 Issue 12 Pg. 3062-7 (Dec 1995) ISSN: 0047-1852 [Print] JAPAN
PMID8577059 (Publication Type: English Abstract, Journal Article, Review)
  • Endothelium, Vascular (pathology)
  • Fabry Disease (etiology, pathology)
  • Gangliosidoses (pathology)
  • Humans
  • Lysosomal Storage Diseases (pathology)
  • Skin (blood supply)

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