Adult-Onset Erythropoietic Porphyria in the Setting of MDS

Cernik, Christina; Haller, Nairmeen; Mostow, Eliot N.

doi:10.1001/archdermatol.2009.161

Cited by 7 publications

(5 citation statements)

References 4 publications

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“…The onset of the disease is commonly from infancy to early childhood. Uncommon presentations consist of a mild illness that might be misdiagnosed with Porphyria Cutanea Tarda (PCT) and first appearance in adults often associated with myeloproliferative disorders [ 4 ]. The differential diagnosis of CEP includes porphyrias that present with photosensitivity.…”

Section: Discussionmentioning

confidence: 99%

Congenital erythropoietic porphyria five years observation with standard treatment: a case report

Kamalyan,

Mohammadi

2024

Oxford Medical Case Reports

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Porphyrias are a group of diseases characterized by a deficiency of enzymes in the haem biosynthetic pathway. Congenital Erythropoietic porphyria is a rare autosomal-recessive disorder lacking uroporphyrinogen III synthase. This inherited deficiency results in accumulating uroporphyrinogen I and coproporphyrinogen I in the bone marrow, skin, bones, and other tissues, ultimately excreted via urine and faeces. Clinical manifestations include severe photosensitivity on open body parts with blisters, scarring, hypertrichosis, and mutilations. We describe the first case of CEP in Armenia, with a diagnosis performed in Centre Francais Des (LBMR) Porphyries (France, Paris). It concerns a 22-year-old Armenian man suffering from photosensitivity, excessive hair growth, mutilation, and pink urine discolouration. The five years of follow-up have revealed worsening symptomatology despite preventative measures and demonstrate that standard recommendations did not alleviate the patient’s deteriorating conditions. A cure with an allogeneic haematopoietic stem cell transplant is under strong consideration.

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Section: Discussionmentioning

confidence: 99%

Congenital erythropoietic porphyria five years observation with standard treatment: a case report

Kamalyan,

Mohammadi

2024

Oxford Medical Case Reports

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“…To our knowledge, only 10 cases of erythropoietic uroporphyria secondary to MDS have been described in the literature; none had chromosome 3 alterations. However, this disease might be underdiagnosed owing to the extensive laboratory work‐up required …”

Section: Discussionmentioning

confidence: 99%

“…However, this disease might be underdiagnosed owing to the extensive laboratory work-up required. 4,6,8 Erythropoietic uroporphyria secondary to MDS must be differentiated from germline UROS mutations with mild phenotypic expression and also from CEP heterozygous carriers. 4 Uroporphyrin I accumulation in erythropoietic uroporphyria depends on the emergence and size of a myelodysplastic clone that carries the somatic mutation that would impact on UROS activity and account for the mild and late-onset phenotype.…”

Section: Discussionmentioning

confidence: 99%

“…6 These latter patients show increased levels of isomer I porphyrin in a typical CEP pattern but do not harbour UROS germline mutations, and the enzymatic UROS activity measured in total erythrocytes is normal. [6][7][8] A denomination of erythropoietic uroporphyria secondary to myeloid malignancy has recently been proposed to distinguish acquired caseswhere the overproduction of porphyrins is limited to the dysplastic clones, usually due to acquisition of UROS mutationsfrom the mild adultonset disease that results from the inheritance of UROS mutations. 6…”

Section: What Does This Study Add?mentioning

confidence: 99%

“…Although CEP manifestations usually occur during the first decade of life, late‐onset disease with milder clinical expression has been described in two situations: (i) more frequently in patients with germline UROS mutations (homozygous mutants or compound heterozygotes); (ii) in a small number of patients in whom an acquired erythropoietic uroporphyria is associated with a myeloid malignancy, usually a myelodysplastic syndrome (MDS) . These latter patients show increased levels of isomer I porphyrin in a typical CEP pattern but do not harbour UROS germline mutations, and the enzymatic UROS activity measured in total erythrocytes is normal . A denomination of erythropoietic uroporphyria secondary to myeloid malignancy has recently been proposed to distinguish acquired cases – where the overproduction of porphyrins is limited to the dysplastic clones, usually due to acquisition of UROS mutations – from the mild adult‐onset disease that results from the inheritance of UROS mutations …”

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Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations: a case report

et al. 2018

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Congenital erythropoietic porphyria is a rare autosomal recessive disease caused by a deficiency of uroporphyrinogen III synthase, owing to mutations in UROS in chromosome 10. Occasionally, patients show a mild, late-onset disease, without germline UROS mutations, associated with haematological malignancies. We report a 65-year-old patient with photosensitivity, overexcretion of porphyrins and thrombocytopenia. Bone marrow analysis gave a diagnosis of myelodysplastic syndrome (MDS) with the presence of a derivative chromosome 3, possibly due to an inversion including 3q21 and 3q26 break points. After allogeneic stem-cell transplantation, complete remission of MDS and uroporphyria was achieved. To our knowledge, this is the first reported case of acquired erythropoietic uroporphyria associated with MDS, with chromosome 3 alterations.

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