Rare skin conditions
For more on Clinuvel's clinical program for EPP, click here. To download a PDF information sheet, click here. Snapshot Other common terms: EPP, protoporphyria, erythropoietic porphyria ICD-10 classification: E80.0 Prevalence: Rare; between 1:58,000-200,000. Estimates of between 5000-10,000 globally Causes: Inherited disease; defective enzyme causes inability to properly produce haem (heme). Symptoms: Phototoxicity: swelling, burning, itching and redness of the skin,…
Other common terms: AP, Hutchinson prurigo ICD-10 classification: Not defined, L55-59 Prevalence: Unknown. More common in Latin and Indigenous Americans Causes: Not well understood. Suggested that an immune-mediated response to UV light is responsible. Symptoms: Extremely itchy skin rash, red and inflamed bumps (papules), thickened patches (plaques) and/or lumps (nodules) following exposure of skin to sunlight. Treatments/cures: In some cases,…
Snapshot Other common terms: CEP, Günther’s disease, Uroporphyrinogen III synthase deficiency, UROS deficiency, Congenital porphyria, Congenital hematoporphyria, Erythropoietic uroporphyria ICD-10 classification: E80.0 Prevalence: Extremely rare; less than 200 cases reported. Usually manifests during infancy or early childhood. Causes: Genetic mutation in the UROS gene leading to reduced enzyme function. Symptoms: Symptoms may include: blistering, scarring, necrosis or excessive hair growth on light-exposed skin; disfiguration…
Snapshot Other common terms: HV, Bazin’s Hydroa Vacciniforme ICD-10 classification: L56.8 Prevalence: Rare. Prevalence data is scarce, reported as 0.34:100,000 in Scotland. Mainly presents in children aged 3-15. Causes: Exact cause unknown; there is correlation between diease symptoms and exposure of skin to UV (particularly UVA) radiation. Symptoms: Eruption of fluid-filled blisters on the skin following exposure to UV radiation. Treatments/cures:…
Snapshot Other common terms: PCT ICD-10 classification: E80.1 Prevalence: Uncommon; 1:25,000 Causes: Inherited disease; defective enzyme causes inability to properly produce haem (heme). Symptoms: Skin photosensitivity causing extremely fragile skin and changes in pigmentation (melanin). Discoloured urine. Treatments/cures: Cannot be cured. Avoidance of sunlight and certain artificial lights. Differential diagnosis: Erythropoietic protoporphyria, polymorphous light eruption Porphyria cutanea tarda (PCT) is…
Snapshot Other common terms: SU ICD-10 classification: L56.3 Prevalence: Very rare; 3.1:100,000 individuals globally. Solar urticaria is more likely to affect women Causes: Exposure of skin to light. Exact allergen is unknown. Symptoms: Systemic: anaphylaxis, breathing difficulty, nausea and headaches. Immediate localised reactions on skin: characteristic ‘wheal’ formation, erupting flares on exposed skin sites and to swelling of soft tissues.…
Snapshot Other common terms: UP ICD-10 classification: Q82.2 Prevalence: Rare, exact prevalence is unknown but it is more common in Caucasians Causes: Excess of inflammatory mast cells due to an unknown cause; mast cells trigger histamine in the affected area. Environmental factors may trigger symptoms. Symptoms: Swelling, itchiness and a rash on the skin. May present as brown patches, hives,…
Snapshot Other common terms: XP ICD-10 classification: Q82.1 Prevalence: 1:250,000 globally except in Japan where incidence is 1:40,000 Causes: Inherited. Autosomal recessive disease. Symptoms: XP causes a defect in DNA repair, making affected individuals hypersensitive to UV light and causing an extreme susceptibility to skin cancers. Ocular and neurological issues are likely. Treatments/cures: No known cure. Treatment is limited to…
