title: Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology.
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.
authors.affiliation: Department of Dermatology, Baylor University Medical Center, Dallas, TX, USA.
authors.forename: Mary E
authors.initials: ME
authors.lastname: Horner
authors.forename: Ali
authors.initials: A
authors.lastname: Alikhan
authors.forename: Suzanne
authors.initials: S
authors.lastname: Tintle
authors.forename: Silvia
authors.initials: S
authors.lastname: Tortorelli
authors.forename: Dawn Marie R
authors.initials: DM
authors.lastname: Davis
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Hand
mesh_terms: D046349:Coproporphyria, Hereditary / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D006801:Humans; D017119:Porphyria Cutanea Tarda / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D046350:Porphyria, Variegate / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D046351:Protoporphyria, Erythropoietic / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D012871:Skin Diseases / Q000453:epidemiology / Q000235:genetics / Q000473:pathology