Congenital erythropoietic porphyria

Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.

Cutaneous photosensitivity

An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.


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PMID (PMCID)
25251786
 MALE Child
Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis.
Di Pierro E, Russo R, Karakas Z, Brancaleoni V, Gambale A, Kurt I, Winter SS, Granata F, Czuchlewski DR, Langella C, Iolascon A, Cappellini MD.
Eur J Haematol. 2015;94(6):491-7.
Congenital erythropoietic porphyria (CEP) is a rare genetic disease that is characterized by a severe cutaneous photosensitivity causing unrecoverable deformities, chronic hemolytic anemia requiring blood transfusion program, and by fatal systemic complications.
12819610
 FEMALE Adult
[Corneoscleral involvement in congenital erythropoietic porphyria. Gunther disease].
Arne JL, Depeyre C, Lesueur L.
J Fr Ophtalmol. 2003;26(5):498-502.
Congenital erythropoietic porphyria (CEP) is an extremely rare autosomal recessively inherited disorder characterized by mutilating cutaneous photosensitivity and abnormal porphyrin heme synthesis in bone marrow.
8738466
 MIXED_SAMPLE Adult
Ocular complication in congenital erythropoietic porphyria.
Tanigawa K, Takamura N, Nakata K, Nagataki S, Yamashita S.
Ophthalmologica. 1996;210(3):183-5.
Congenital erythropoietic porphyria (CEP), classically known as "Gunther disease', is an extremely rare autosomal recessively inherited disorder characterized by mutilating cutaneous photosensitivity and abnormal porphyrin heam biosynthesis in the bone marrow.