TY - JOUR
T1 - Cutaneous porphyrias part I
T2 - Epidemiology, pathogenesis, presentation, diagnosis, and histopathology
AU - Horner, Mary E.
AU - Alikhan, Ali
AU - Tintle, Suzanne
AU - Tortorelli, Silvia
AU - Davis, Dawn Marie R.
AU - Hand, Jennifer L.
N1 - Copyright:
Copyright 2013 Elsevier B.V., All rights reserved.
PY - 2013/12
Y1 - 2013/12
N2 - 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
AB - 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
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U2 - 10.1111/ijd.12305
DO - 10.1111/ijd.12305
M3 - Article
C2 - 24261722
AN - SCOPUS:84888057348
SN - 0011-9059
VL - 52
SP - 1464
EP - 1480
JO - International journal of dermatology
JF - International journal of dermatology
IS - 12
ER -