Rare skin conditions
Congenital Erythropoietic Porphyria (CEP)
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 of the ears and nose; loss of fingers; anaemia; red-stained teeth; pink/red coloured urine and enlarged spleen. Treatments/cures: Treatment with blood transfusions, splenectomy, oral sorbents, beta-carotene and oxygen quenchers have all…
Actinic Prurigo (AP)
Snapshot 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, actinic prurigo may resolve itself. Topical steroids, emollients, phototherapy, thalidomine and oral immunosuppressants. Differential diagnosis: Polymorphous light eruption, prurigo nodularis, lupus Actinic Prurigo (AP) is a rare chronic, idiopathic…
Erythropoietic Protoporphyria (EPP)
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, occurring during or after exposure to sunlight, including light passing through windows. Liver toxicity in 5% of cases. Microcytic anaemia can occur. Treatments/cures: None proven fully effective to date. Phototoxicity…
Hydroa Vacciniforme (HV)
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: No known cure, HV commonly resolves in late adolescence. Phototherapy, fish oil and various drugs may reduce symptoms. Differential diagnosis: Porphyrias (erythropoietic protoporphyria, congenital erythropoietic protoporphyria), Polymorphous Light Eruption, Cutaneous…
Porphyria Cutanea Tarda (PCT)
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 the most frequently seen disease of a group of disorders (the Porphyrias) that can be acquired or inherited. It is caused by low levels of an enzyme (uroporphyrinogen decarboxylase or…
Solar urticaria (SU)
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. Treatments/cures: No known cure. Anti-histamines and topical steroids may be useful in some cases. Immunosuppressants and plasmaphoresis in extreme cases. Differential diagnosis: Polymorphous light eruption, drug induced photosensitivity, other allergies/physical…
Urticaria Pigmentosa (UP)
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, welts, rashes, blisters or facial flushing. Diarrhea, low blood pressure and an increased heart rate may present in certain cases. Treatments/cures: Avoidance of causes. Anti-histamines, mast cell stabilizers and topical…
Xeroderma Pigmentosum (XP)
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 sun avoidance, and immediately treat skin cancers. Xeroderma Pigmentosum (XP) is a rare, hereditary disease where patients experience skin hypersensitivity to ultraviolet (UV) light. It is characterized by dry skin,…
Science of Skin Blog Posts
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Taking on Vitiligo, a depigmentation disorder of the skin. In 2010, Clinuvel ventured into an area of dermatology where no other pharmaceut... Watch now |
Taking on Vitiligo, a depigmentation disorder of the skin. In 2010, Clinuvel ventured into an area of dermatology where no other pharmaceut... Watch now |
Taking on Vitiligo, a depigmentation disorder of the skin. In 2010, Clinuvel ventured into an area of dermatology where no other pharmaceut... Watch now |
