Diagnostic Delay in Erythropoietic Protoporphyria

J Pediatr. 2018 Nov;202:320-323.e2. doi: 10.1016/j.jpeds.2018.06.001. Epub 2018 Jul 2.

Abstract

Erythropoietic protoporphyria is a photodermatosis presenting in childhood with severe pain on sun exposure. The diagnosis is often delayed because of the lack of awareness among pediatricians. We describe the diagnostic odyssey of 2 children presenting with symptoms of erythropoietic protoporphyria and report results of a survey of 129 affected individuals.

Keywords: photodermatoses; phototoxicity; porphyria.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Child, Preschool
  • Delayed Diagnosis*
  • Diagnosis, Differential
  • Female
  • Humans
  • Hypersensitivity / diagnosis*
  • Male
  • Photosensitivity Disorders / diagnosis*
  • Photosensitivity Disorders / therapy
  • Prognosis
  • Protective Clothing
  • Protoporphyria, Erythropoietic / diagnosis*
  • Protoporphyria, Erythropoietic / therapy
  • Recurrence
  • Risk Assessment
  • Severity of Illness Index
  • Sunlight / adverse effects