This service groups the genes associated with 3 diseases with skin manifestations identifiable by a dermatologist, thus allowing clinical diagnosis.
- Fabry disease: lysosomal disease of genetic origin characterized by specific skin manifestations, angiokeratomas. It also associates neurological symptoms (pain), renal symptoms (proteinuria, chronic renal failure), cardiovascular symptoms (cardiomyopathy, arrhythmia), and cerebrovascular symptoms (transient ischemic attacks, cerebrovascular accidents).
- Cutaneous amyloidosis: Primary localized cutaneous amyloidosis is characterized by pruritus and amyloid deposits on keratinous remains in the papillary dermis.
- Cutaneous mastocytosis: Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces the release of histamine from mechanically activated mast cells, causing erythema, hives, and pruritus, a phenomenon called “Darier’s sign.”
