Late-onset erythropoietic protoporphyria in association with haematological malignancy

Abstract

Dr Arun Bharati, Dermatology Department, Royal Liverpool and Broadgreen University Hospitals NHS Trust, Broadgreen Hospital, Thomas Drive, Liverpool L14 3LB, UK. E‐mail: [email protected] Conflict of interest: none declared. Erythropoietic protoporphyria (EPP) is an inherited disorder of haem biosynthesis caused by ferrochelatase deficiency.1 This results in accumulation of protoporphyrin in erythrocytes and their precursors, and photoactivation of the accumulated protoporphyrin causes endothelial injury. Patients normally present in early childhood. Onset in adulthood has rarely been reported, usually in association with myelodysplastic syndrome (MDS).2 A 57‐year‐old man presented in July 2004 with a rash, predominantly over the face and hands, of 4 weeks’ duration. He worked as a driver of a hospital waste‐disposal truck. He complained of painful swelling of the hands and ankles, and a tingling sensation over his forearms and hands on sun exposure. The rash had started with erythema and blisters, which had then formed crusts. Although his symptoms had begun while in the UK, they had flared with sun exposure on holiday abroad. On examination, there were erosions on the lower lip and dorsa of the hands (Fig. 1). Crusted lesions were present over the face and upper chest.