Cutaneous porphyrias part I: Epidemiology, pathogenesis, presentation, diagnosis, and histopathology

Mary E. Horner, Ali Alikhan, Suzanne Tintle, Silvia Tortorelli, Dawn Marie R. Davis, Jennifer L. Hand

Research output: Contribution to journalArticlepeer-review

39 Scopus citations


The porphyrias are a group of disorders characterized by defects in the heme biosynthesis pathway. Many present with skin findings including photosensitivity, bullae, hypertrichosis, and scarring. Systemic symptoms may include abdominal pain, neuropsychiatric changes, anemia, and liver disease. With advances in DNA analysis, researchers are discovering the underlying genetic causes of the porphyrias, enabling family members to be tested for genetic mutations. Here we present a comprehensive review of porphyria focusing on those with cutaneous manifestations. In Part I, we have included the epidemiology, pathogenesis, presentation, diagnosis, and histopathology. Treatment and management options will be discussed in Part II. International Journal of Dermatology

Original languageEnglish (US)
Pages (from-to)1464-1480
Number of pages17
JournalInternational journal of dermatology
Issue number12
StatePublished - Dec 2013

ASJC Scopus subject areas

  • Dermatology


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