GTR Home > Conditions/Phenotypes > Protoporphyria, erythropoietic, X-linked

Disease characteristics

Excerpted from the GeneReview: X-Linked Protoporphyria
X-linked protoporphyria (XLP) is characterized in affected males by cutaneous photosensitivity (usually beginning in infancy or childhood) that results in tingling, burning, pain, and itching within minutes of sun/light exposure and may be accompanied by swelling and redness. Vesicular lesions are uncommon. Pain, which may seem out of proportion to the visible skin lesions, may persist for hours or days after the initial phototoxic reaction. Photosensitivity usually remains for life. Multiple episodes of acute photosensitivity may lead to chronic changes of sun-exposed skin (lichenification, leathery pseudovesicles, grooving around the lips) and loss of lunulae of the nails. An unknown proportion of individuals with XLP develop liver disease. Except for those with advanced liver disease, life expectancy is not reduced. The phenotype in heterozygous females ranges from asymptomatic to as severe as affected males.

Available tests

10 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes for additional relevant tests.

Associated genes

  • Also known as: RP5-884M20.1, ALAS-E, ALASE, ANH1, ASB, XLDPP, XLEPP, XLSA, ALAS2
    Summary: aminolevulinate, delta-, synthase 2

Clinical features

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  • Cutaneous photosensitivity
  • Cholelithiasis
  • Iron deficiency anemia
  • Elevated hepatic transaminases
  • Increased erythrocyte protoporphyrin concentration

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