Congenital erythropoietic porphyria

Fritsch, Clemens; Bolsen, K.; Ruzicka, Thomas; Goerz, G.

doi:10.1016/s0190-9622(97)70249-4

Cited by 114 publications

(81 citation statements)

References 113 publications

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“…Supplementary material is linked to the online version of the paper at http://www.nature.com/jid (Fritsch et al, 1997;de Verneuil et al, 2003;Phillips et al, 2007). The resulting overproduction of type I porphyrin isomers by erythroid cells causes severe photosensitivity and hemolytic anemia.…”

Section: Supplementary Materialsmentioning

confidence: 99%

“…Abbreviations: BFU, burst-forming unit; CEP, congenital erythropoietic porphyria; MDS, myelodysplastic syndrome; UROS, uroporphyrinogen III synthase It usually presents in infancy; however, 13 patients have been reported who did not present with the disease until adulthood (Fritsch et al, 1997;Kontos et al, 2003;de Verneuil et al, 2003). Some of them had mild late-onset autosomal recessive CEP (de Verneuil et al, 2003); however, five of the seven presenting with the disease after the age of 50 years had an associated myeloid malignancy, usually myelodysplastic syndrome (MDS; Kontos et al, 2003).…”

Section: Supplementary Materialsmentioning

confidence: 99%

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Erythropoietic Uroporphyria Associated with Myeloid Malignancy Is Likely Distinct from Autosomal Recessive Congenital Erythropoietic Porphyria

Sarkany

Ibbotson

Whatley

et al. 2011

Journal of Investigative Dermatology

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CTLAAla 17 ) and that this results in inefficient glycosylation and decreased cell-surface expression (Anjos et al., 2002). Our association results show that rs231775 was also strongly associated with AA in our sample although the P-values were less significant and the ORs were lower than those for rs3087243. Furthermore, conditional analysis revealed that rs1427678 explained the entire association signal at the locus.In conclusion, our results provide strong support for the hypothesis that CTLA4 is a susceptibility gene for AA, and they also suggest that it has the strongest effect in patients with a severe form of the disorder. Given the low P-values observed in our study and the genome-wide association study by Petukhova et al. (2010), we consider CTLA4 a proven susceptibility gene for AA.

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Section: Supplementary Materialsmentioning

confidence: 99%

Section: Supplementary Materialsmentioning

confidence: 99%

Erythropoietic Uroporphyria Associated with Myeloid Malignancy Is Likely Distinct from Autosomal Recessive Congenital Erythropoietic Porphyria

Sarkany

Ibbotson

Whatley

et al. 2011

Journal of Investigative Dermatology

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“…The lesions occur in skin exposed to the sun and are most severe in congenital erythropoietic porphyria 28. Porphyria cutanea tarda is the commonest of all the porphyrias (table).…”

Section: Cutaneous Porphyriasmentioning

confidence: 99%

Regular review: Diagnosis and management of porphyria

Thadani

Deacon²,

Peters

2000

BMJ

157

121

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“…Congenital erythropoietic porphyria (MIM 263,700) is an autosomal recessive disease caused by a homozygous defect of uroporphyrinogen III cosynthetase. This leads to high levels of uroporphyrin I in the tissue which in turn leads to intense phototoxic skindamage with severe mutilations [89]. During the disease process, hyperpigmentation and depigmentation develop in the sun-exposed area including the neck.…”

Section: Reticulate Flexural Pigmentary Disorders (Mim 179850) and Lmentioning

confidence: 99%

Genodermatosis with Reticulate, Patchy and Mottled Pigmentation of the Neck – A Clue to Rare Dermatologic Disorders

Itin

Lautenschläger

1998

Dermatology

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Reticulate pigmentation of the neck is a common finding in numerous genodermatoses and acquired diseases. As the neck is readily accessible to medical inspection, it may serve as a diagnostic window for various dermatoses. Several entities out of the spectrum of ectodermal dysplasia present with reticulate or mottled pigmentation on the upper trunk and neck. The most impressive genodermatoses with punctate and reticulate pigmentation affecting the neck are the Naegeli-Franceschetti-Jadassohn syndrome, dermatopathia pigmentosa reticularis and dyskeratosis congenita. Reticulate pigmented anomaly of the flexures and lentiginosis, disorders of cornification and related entities are further genodermatoses which may involve the neck. In our review we have integrated inherited dermatoses which do not obligatorily affect the neck but have been well documented to do so. Our work should give the clinician a checklist on genodermatoses which may produce reticulate and mottled pigmentation on the neck.

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Congenital erythropoietic porphyria

Cited by 114 publications

References 113 publications

Erythropoietic Uroporphyria Associated with Myeloid Malignancy Is Likely Distinct from Autosomal Recessive Congenital Erythropoietic Porphyria

Erythropoietic Uroporphyria Associated with Myeloid Malignancy Is Likely Distinct from Autosomal Recessive Congenital Erythropoietic Porphyria

Regular review: Diagnosis and management of porphyria

Genodermatosis with Reticulate, Patchy and Mottled Pigmentation of the Neck – A Clue to Rare Dermatologic Disorders

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