Rare Diseases Symptoms Automatic Extraction

Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology.

[erythropoietic protoporphyria]

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.

Diseases presenting "cutaneous manifestations" symptom

  • cowden syndrome
  • cutaneous mastocytosis
  • erythropoietic protoporphyria
  • inclusion body myositis
  • junctional epidermolysis bullosa
  • malignant atrophic papulosis
  • omenn syndrome
  • sneddon syndrome
  • x-linked adrenoleukodystrophy

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