Rare Diseases Symptoms Automatic Extraction

X-linked dominant protoporphyria: a new porphyria.

[erythropoietic protoporphyria]

X-linked dominant protoporphyria (XLDPP) was first reported in the genetics literature in 2008. It has a phenotype very similar to erythropoietic protoporphyria (EPP), but is distinguished from EPP by higher concentrations of erythrocyte protoporphyrin (of which a high proportion is zinc-chelated), its apparently higher incidence of liver disease, and an X-linked dominant pattern of inheritance. Dermatologists should understand how XLDPP differs from EPP, in order to advise newly diagnosed patients correctly about the genetic implications and the long-term management strategy. We present a case series of XLDPP to introduce this condition to the dermatology literature.

Diseases presenting "liver disease" symptom

  • benign recurrent intrahepatic cholestasis
  • carcinoma of the gallbladder
  • cholangiocarcinoma
  • cutaneous mastocytosis
  • erythropoietic protoporphyria
  • legionellosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • neonatal adrenoleukodystrophy
  • papillon-lefèvre syndrome
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • pyomyositis
  • typhoid
  • zellweger syndrome

This symptom has already been validated