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Increased erythrocyte protoporphyrin concentration

MedGen UID:
868608
Concept ID:
C4023007
Finding
HPO: HP:0012187

Definition

Concentration of protoporphyrins in erythrocytes above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Increased erythrocyte protoporphyrin concentration

Conditions with this feature

X-linked erythropoietic protoporphyria
MedGen UID:
394385
Concept ID:
C2677889
Disease or Syndrome
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. Blistering 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 is lifelong. 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 in affected males.
Protoporphyria, erythropoietic, 2
MedGen UID:
1645733
Concept ID:
C4693947
Disease or Syndrome
Erythropoietic porphyria-2 is an autosomal dominant metabolic disorder of heme biosynthesis, resulting in abnormal accumulation of the heme biosynthesis intermediate protoporphyrin IX (PPIX). Affected individuals may have photosensitivity (summary by Yien et al., 2017) For discussion of genetic heterogeneity of EPP, see EPP1 (177000).

Recent clinical studies

Diagnosis

Labbé RF
Clin Chem 1977 Feb;23(2 PT. 1):256-9. PMID: 832388

Therapy

Timonen K, Mustajoki P, Tenhunen R, Lauharanta J
Br J Dermatol 1990 Sep;123(3):381-7. doi: 10.1111/j.1365-2133.1990.tb06299.x. PMID: 2206975

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