Sphingolipidoses with skin manifestations

Definition

A heterogeneous group of conditions including Fabry disease and Gaucher disease types 1 and 2 (see Liver disease due to disorders of lysosomal storage) which may present with skin manifestations.

Nearby in Genetic or developmental disorders affecting the skin

• EC10-EC1YGenetic syndromes affecting the skin
• EC20Genetic disorders of keratinisation
• EC21Genetic defects of hair or hair growth
• EC22Genetic defects of nails or nail growth
• EC23Genetic disorders of skin pigmentation
• EC30-EC3ZGenetically-determined epidermolysis bullosa
• EC40-EC4YGenetic disorders affecting dermal collagen, elastin or other matrix proteins
• EC50-EC5YSpecified developmental anomalies affecting the skin