Conflicts of interest: None.
Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology
Article first published online: 21 NOV 2013
© 2013 The International Society of Dermatology
International Journal of Dermatology
Volume 52, Issue 12, pages 1464–1480, December 2013
How to Cite
Horner, M. E., Alikhan, A., Tintle, S., Tortorelli, S., Davis, D. M. R. and Hand, J. L. (2013), Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology. International Journal of Dermatology, 52: 1464–1480. doi: 10.1111/ijd.12305
- Issue published online: 21 NOV 2013
- Article first published online: 21 NOV 2013
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.