Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology.
Int J Dermatol
; 52(12): 1464-80, 2013 Dec.
Article
en En
| MEDLINE
| ID: mdl-24261722
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades de la Piel
/
Porfiria Cutánea Tardía
/
Coproporfiria Hereditaria
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Porfiria Variegata
/
Protoporfiria Eritropoyética
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Screening_studies
Límite:
Humans
Idioma:
En
Revista:
Int J Dermatol
Año:
2013
Tipo del documento:
Article
País de afiliación:
Estados Unidos