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Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology
Author(s) -
Horner Mary E.,
Alikhan Ali,
Tintle Suzanne,
Tortorelli Silvia,
Davis Dawn Marie R.,
Hand Jennifer L.
Publication year - 2013
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/ijd.12305
Subject(s) - medicine , porphyria , histopathology , pathogenesis , erythropoietic protoporphyria , epidemiology , dermatology , porphyria cutanea tarda , acute intermittent porphyria , disease , uroporphyrinogen iii decarboxylase , pathology , abdominal pain , protoporphyrin , heme , surgery , biochemistry , porphyrin , chemistry , photochemistry , enzyme
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 .