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 "abdominal pain" symptom

  • 22q11.2 deletion syndrome
  • adrenal incidentaloma
  • alpha-thalassemia
  • benign recurrent intrahepatic cholestasis
  • carcinoma of the gallbladder
  • child syndrome
  • cholangiocarcinoma
  • congenital diaphragmatic hernia
  • cushing syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dedifferentiated liposarcoma
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • focal myositis
  • liposarcoma
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • pleomorphic liposarcoma
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • proteus syndrome
  • scrub typhus
  • sneddon syndrome
  • systemic capillary leak syndrome
  • typhoid
  • von hippel-lindau disease
  • well-differentiated liposarcoma

This symptom has already been validated