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Images in paediatrics
Erythropoietic protoporphyria in a boy
  1. Paola Sabrina Buonuomo1,
  2. Marina Macchiaiolo1,
  3. Michaela Veronika Gonfiantini1,
  4. Gianfranco Biolcati2,
  5. Angela Pitisci2,
  6. Alberto Villani3,
  7. Andrea Bartuli1
  1. 1 Rare Diseases and Medical Genetics Unit, “Bambino Gesù” Children's Hospital, Rome, Italy
  2. 2 Porfiria Center, San Gallicano Dermatological Institute IRCCS, IFO, Rome, Italy
  3. 3 General Pediatrics and Infectious Diseases Unit, “Bambino Gesù” Children's Hospital, Rome, Italy
  1. Correspondence to Dr Paola Sabrina Buonuomo, Rare Diseases and Medical Genetics Unit “Bambino Gesù” Children's Hospital, piazza S. Onofrio, 4, Rome 00135, Italy; psabrina.buonuomo{at}

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A 9-year-old boy was assessed after experiencing a 2-year history of swelling and burning sensations on the dorsal surface of both hands, his face and his nose. His symptoms developed from the age of 2 years, were always associated with exposure to sun or warm temperature and would last up to …

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  • Contributors PSB, MM, and MVG were involved in clinical management of the patient. PSB wrote the paper. AB supervised the work and followed the patient. AP and GB worked on biochemical data and their interpretation and AV followed the patient.

  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.