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Delayed photosensitivity in a child with erythropoietic protoporphyria : a case report

James Kiberd1, Laura Finlayson1,2

  • 1Dalhousie University, Halifax Regional Municipality, Canada.

SAGE Open Medical Case Reports
|June 2, 2018
PubMed

Insights

Erythropoietic protoporphyria (EPP) is a rare genetic disorder causing painful photosensitivity due to protoporphyrin buildup. This case highlights a child with delayed EPP reactions, emphasizing careful pediatric evaluation for photosensitivity.

Area of Science:

  • Genetics
  • Biochemistry
  • Dermatology

Background:

  • Erythropoietic protoporphyria (EPP) is an inherited disorder characterized by protoporphyrin accumulation.
  • Clinical manifestations include painful, edematous cutaneous porphyria upon sun exposure.

Observation:

  • A four-year-old boy presented with delayed photosensitivity reactions, developing symptoms hours after sun exposure.
  • He exhibited swelling and a violaceous rash on hands and ears, with severe reactions requiring analgesia.
  • Waxy, depressed scars on the face were also noted.

Findings:

  • Laboratory results showed elevated total and free protoporphyrin levels.
  • Genetic testing confirmed a mutation in the FECH gene, diagnosing EPP.
  • The patient's delayed photosensitivity deviated from the typical rapid onset in EPP.

Implications:

  • This case underscores the importance of considering EPP in pediatric patients with unusual photosensitivity.
  • Delayed reactions, though rare, necessitate thorough investigation for accurate diagnosis and management.
  • Understanding EPP variants aids in early detection and intervention for affected children.

Keywords:
Pediatricdermatology

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