Congenital erythropoietic porphyria

Wenner, Christopher; Neumann, Norbert; Frank, Jorge

doi:10.1007/s00105-015-3732-8

Cited by 6 publications

(7 citation statements)

References 15 publications

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“…Uroporphyrinogen III synthase deficiency leads to an accumulation of porphyrins in the erythroid precursors of bone marrow, red blood cells, and tissues such as skin, bones, teeth, and spleen. [1][2][3] The exposure of nonphysiological accumulated porphyrins to sunlight causes oxidative stress leading to cell death.…”

Section: Introductionmentioning

confidence: 99%

Very Early Diagnosis and Management of Congenital Erythropoietic Porphyria

Desjardins

Naccache

Hébert

et al. 2022

Clin Pediatr (Phila)

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Congenital erythropoietic porphyria (CEP), a rare form of porphyria, is caused by a defect in the heme biosynthesis pathway of the enzyme uroporphyrinogen III synthase (UROS). Uroporphyrinogen III synthase deficiency leads to an accumulation of nonphysiological porphyrins in bone marrow, red blood cells, skin, bones, teeth, and spleen. Consequently, the exposure to sunlight causes severe photosensitivity, long-term intravascular hemolysis, and eventually, irreversible mutilating deformities. Several supportive therapies such as strict sun avoidance, physical sunblocks, red blood cells transfusions, hydroxyurea, and splenectomy are commonly used in the management of CEP. Currently, the only available curative treatment of CEP is hematopoietic stem cell transplantation (HSCT). In this article, we present a young girl in which precocious genetic testing enabled early diagnosis and allowed curative treatment with HSCT for CEP at the age of 3 months of age, that is, the youngest reported case thus far.

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Section: Introductionmentioning

confidence: 99%

Very Early Diagnosis and Management of Congenital Erythropoietic Porphyria

Desjardins

Naccache

Hébert

et al. 2022

Clin Pediatr (Phila)

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“…Secondary infections could cause scarring and may lead to severe deformity and disfigurement. Hypertrichosis may be seen in some patients [4]. Haemolytic anemia and splenomegaly are manifestations of systemic involvement, whereas the onset of haematological manifestations by the age of 5 is reported to be a poor prognostic indicator [1].…”

Section: Discussionmentioning

confidence: 99%

A newly diagnosed South African case of congenital erythropoietic porphyria

Das¹,

Gündüz²,

Modi³

et al. 2020

Our Dermatol Online

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“…As observed in our case, manifestations of CEP include bullous lesions on photosensitive exposed areas, atrophic scars and hypopigmentation, as well as erythrodontia [ 8 ]. In addition to the clinical manifestations, the diagnosis can be confirmed by observing the increase of the porphyrin fraction in the plasma, urine and stool, as well as by genetic analysis [ 19 , 20 ].…”

Section: Discussionmentioning

confidence: 99%

Neonatal hemolytic anemia does not always indicate thalassemia: a case report

2017

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BackgroundCongenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis. This disorder is due to the genetic defect of uroporphyrinogen III cosynthase. This defect results in the accumulation of high amounts of uroporphyrin I in all tissues, leading to clinical manifestations ranging from mild to severe chronic damage of the skin, cartilage and bone. Hypertrichosis, erythrodontia and reddish-colored urine are often present, as well as hemolytic anemia accompanied by hepatosplenomegaly.Case presentationHere, we present a case of a 5-year-old male child of Middle Eastern origin who had been diagnosed as having alpha thalassemia and was undergoing chronic blood transfusions. He later presented with hypopigmented skin lesions and atrophy post-photosensitivity, persistent red-colored urine and hepatosplenomegaly. Laboratory investigations showed a high level of porphyrin metabolites in his plasma and erythrocytes. As a result, he was diagnosed as having Congenital erythropoietic porphyria.ConclusionHere, we diagnose a case of congenital erythropoietic porphyria which was initially missed, although the clinical features were clear (red-colored urine, hepatosplenomegaly and hemolytic anemia were present since birth, and skin manifestations appeared at the age of 22 months after being exposed to sunlight). After a DNA test was performed, the patient was initially diagnosed as having alpha thalassemia. We identified two causes of hemolytic anemia (congenital erythropoietic porphyria and alpha thalassemia) in this patient. The diagnosis of congenital erythropoietic porphyria was missed up until the child turned 5 years old. To our knowledge, this is the first case of hemolytic anemia to be reported with a diagnosis of both congenital erythropoietic porphyria and alpha thalassemia.

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Congenital erythropoietic porphyria

Cited by 6 publications

References 15 publications

Very Early Diagnosis and Management of Congenital Erythropoietic Porphyria

Very Early Diagnosis and Management of Congenital Erythropoietic Porphyria

A newly diagnosed South African case of congenital erythropoietic porphyria

Neonatal hemolytic anemia does not always indicate thalassemia: a case report

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