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[Lysosomal storage diseases with angiokeratoma corporis diffusum]
1Department of Dermatology, Kagoshima University Faculty of Medicine.
Insights
Six lysosomal storage diseases can cause angiokeratoma corporis diffusum. Fabry disease is most known, but others like fucosidosis and galactosialidosis also present with these skin lesions.
Area of Science:
- Biochemistry
- Genetics
- Dermatology
Context:
- Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders.
- Angiokeratoma corporis diffusum is a clinical manifestation associated with several LSDs.
- Understanding the spectrum of LSDs causing angiokeratoma is crucial for diagnosis.
Purpose:
- To review the clinical, histological, ultrastructural, and biochemical features of LSDs associated with angiokeratoma corporis diffusum.
- To differentiate the presentation of angiokeratoma in various LSDs.
- To highlight the diagnostic significance of angiokeratoma in LSDs.
Summary:
- Six lysosomal storage diseases are known to cause angiokeratoma corporis diffusum.
- Fabry disease is the most recognized cause, though angiokeratoma may be less frequent than previously assumed.
- Fucosidosis, galactosialidosis, Kanzaki disease, beta-mannosidosis, and aspartylglucosaminuria also present with angiokeratoma to varying extents.
- Ultrastructural analysis reveals distinct lysosomal deposits (electron-dense in Fabry disease, electron-lucent in others).
Impact:
- Provides a comprehensive overview of LSDs linked to angiokeratoma.
- Aids clinicians in recognizing and diagnosing these rare genetic disorders.
- Contributes to the understanding of genotype-phenotype correlations in LSDs.
Abstract:
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.