CUTANEOUS PORPHYRIAS IN PEDIATRICS

  • Andreia Guerreiro Interna do Internato Complementar de Pediatria Médica/Resident in Pediatrics, Serviço de Pediatria, Hospital Garcia de Orta, Almada, Portugal
  • Cristina Amaro Assistente Hospitalar de Dermatologia e Venereologia/Consultant, Dermatology and Venereology, Serviço de Dermatovenereologia, Hospital de Curry Cabral – Centro Hospitalar de Lisboa Central, Lisboa, Portugal
Keywords: Diagnosis, Differential, Porphyrias, Child, Skin Diseases

Abstract

The porphyrias are a group of rare metabolic disorders that result mostly from a genetically determined dysfunction of specific enzymes involved in the heme biosynthetic pathway. Clinical presentation is highly variable, as well as its severity and prognosis. The photosensitivity defines the cutaneous porphyrias. Differential diagnosis can be difficult due to uncharacteristic clinical symptoms and overlapping laboratory findings. The treatment is still controversial, although sun avoidance is essential. In this article, we intend to conduct a theoretical review of the porphyrias with cutaneous manifestations in children, emphasizing the diagnosis and treatment of each subtype.

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Published
2015-09-29
How to Cite
Guerreiro, A., & Amaro, C. (2015). CUTANEOUS PORPHYRIAS IN PEDIATRICS. Journal of the Portuguese Society of Dermatology and Venereology, 73(3), 333-341. https://doi.org/10.29021/spdv.73.3.456
Section
Continuous Medica Education