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Background Erythropoietic protoporphyria (EPP) is a rare inherited photodermatosis that causes lifelong painful photosensitivity. Neither its full clinical spectrum nor its impact on quality of life (QoL) has been investigated in a large cohort of patients. Objectives To document the clinical features of EPP and its impact on QoL in a high proportion of all patients with EPP resident in the U.K. Methods Patients with EPP were identified from U.K. clinical databases and assessed by the same clinical investigator over a 7-month period using a standardized proforma and validated adult (Dermatology Life Quality Index, DLQI) and children's (Children's Dermatology Life Quality Index, CDLQI) QoL questionnaires. Results Three hundred and eighty-nine living patients with EPP were identified, of whom 223 [114 females, 109 males; median age 34 years (range: 5-87), from 193 families] were investigated. Total erythrocyte porphyrin (TEP) was higher in males (median: 25.3 μmol L-1) than females (median: 19.3 μmol L-1). The median ages at onset and diagnosis were 1 and 12 years, respectively. Median times for onset of symptoms after sun exposure, onset of signs (oedema, erythema) and resolution of symptoms were 20 min, 6 h and 3 days, respectively. Most patients reported absence of protection by glass (92%), priming (85%), exacerbation by wind (68%), no family history of photosensitivity (56%), no symptoms during winter (56%) and had chronic skin lesions (79%). Symptoms changed little with age but improved during pregnancy in 47% of gravid women. Most patients used protective clothing and a sunscreen; 28% were taking β-carotene and a further 56% had taken it; 29% were not under regular medical care. Two patients (1%) had liver failure and 8% reported gallstone disease. QoL was markedly impaired, with scores similar to those in severe dermatological disease (mean DLQI score 14.0, n = 176; mean CDLQI score 12.8, n = 44), indicating a large effect on patients' lives. DLQI scores correlated weakly with TEP (rs = 0.228; P = 0.002) and time to onset of symptoms (rs = -0.233; P = 0.002) but not with age at onset. Conclusions EPP is a persistent, severely painful, socially disabling disease with a marked impact on QoL. Its diagnosis is often overlooked. None of TEP, age at onset nor time to onset of symptoms is a useful predictor of impaired QoL in individual patients. [ABSTRACT FROM AUTHOR]

Porphyria cutanea tarda (PCT), the most common of the porphyrias, is a mainly acquired disease of the liver, which manifests with bullous skin lesions. However, up to 20% of patients with PCT, usually those with chronic untreated disease, are reported to develop some sclerodermatous changes that may affect both light-exposed and nonexposed areas and that can be histologically indistinguishable from true scleroderma. A small number of patients with PCT has severe or generalized scleroderma, which is not necessarily due to coexistent systemic sclerosis. There are few reports in the literature that detail whether the severe sclerodermatous changes respond to control of the porphyria. We report a case of familial PCT with associated severe sclerodermatous changes causing scarring alopecia, cicatricial ectropion and skin thickening over the upper trunk. The scleroderma improved slightly over a 4-year follow-up period after treatment to normalize porphyrin excretion and prevent relapse. [ABSTRACT FROM AUTHOR]

The article reports on a case of a 57-year-old man with a rash over the face and hands. He was complaining about the painful swelling of the hands and ankles and a tingling sensation over his forearms and hands on sun exposure. Based on examinations, there were erosions on the lower lip and dorsa of the hands and crusted lesions over the face and upper chest. He was treated with photo-protection and oral beta-carotene which resulted in resolution of his symptoms and signs.