1. Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology.
- Author
-
Horner ME, Alikhan A, Tintle S, Tortorelli S, Davis DM, and Hand JL
- Subjects
- Humans, Coproporphyria, Hereditary epidemiology, Coproporphyria, Hereditary genetics, Coproporphyria, Hereditary pathology, Porphyria Cutanea Tarda epidemiology, Porphyria Cutanea Tarda genetics, Porphyria Cutanea Tarda pathology, Porphyria, Variegate epidemiology, Porphyria, Variegate genetics, Porphyria, Variegate pathology, Protoporphyria, Erythropoietic epidemiology, Protoporphyria, Erythropoietic genetics, Protoporphyria, Erythropoietic pathology, Skin Diseases epidemiology, Skin Diseases genetics, Skin Diseases pathology
- Abstract
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., (© 2013 The International Society of Dermatology.)
- Published
- 2013
- Full Text
- View/download PDF