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Erythropoietic protoporphyria.
Lecha M, Puy H, Deybach JC. Lecha M, et al. Orphanet J Rare Dis. 2009 Sep 10;4:19. doi: 10.1186/1750-1172-4-19. Orphanet J Rare Dis. 2009. PMID: 19744342 Free PMC article. Review.
Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. ...In about 2% of patients, overt disease …
Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of pr …
Bloom syndrome.
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J. Arora H, et al. Int J Dermatol. 2014 Jul;53(7):798-802. doi: 10.1111/ijd.12408. Epub 2014 Mar 6. Int J Dermatol. 2014. PMID: 24602044 Review.
Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. ...Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as …
Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the …
[The cutaneous porphyrias].
Cuny JF. Cuny JF. Ann Dermatol Venereol. 2019 Feb;146(2):143-159. doi: 10.1016/j.annder.2018.12.005. Epub 2019 Jan 30. Ann Dermatol Venereol. 2019. PMID: 30709634 Review. French.
The porphyrias are a group of metabolic disorders resulting from an innate abnormality in haem biosynthesis, and the clinical settings of which vary according to the genetic enzyme abnormality in question. These are genetic disorders with autosomal dominant or recessive in …
The porphyrias are a group of metabolic disorders resulting from an innate abnormality in haem biosynthesis, and the clinical settings of wh …
Erythropoietic protoporphyria.
Todd DJ. Todd DJ. Br J Dermatol. 1994 Dec;131(6):751-66. doi: 10.1111/j.1365-2133.1994.tb08577.x. Br J Dermatol. 1994. PMID: 7857832 Review.
Erythropoietic protoporphyria (EPP) is an inherited inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the haem biosynthetic pathway, which catalyses the insertion of iron into protoporphyrin to for …
Erythropoietic protoporphyria (EPP) is an inherited inborn error of porphyrin metabolism caused by decreased activity of the e …
The cutaneous porphyrias.
Elder GH. Elder GH. Semin Dermatol. 1990 Mar;9(1):63-9. Semin Dermatol. 1990. PMID: 2203445 Review.
There are five main types: porphyria cutanea tarda (PCT); variegate porphyria (VP); hereditary coproporphyria (HC); erythropoietic protoporphyria (EPP); and congenital erythropoietic porphyria (CEP). They can be differentiated by measuring heme precursors in …
There are five main types: porphyria cutanea tarda (PCT); variegate porphyria (VP); hereditary coproporphyria (HC); erythropoietic …
Liver disease and erythropoietic protoporphyria: a concise review.
Casanova-González MJ, Trapero-Marugán M, Jones EA, Moreno-Otero R. Casanova-González MJ, et al. World J Gastroenterol. 2010 Sep 28;16(36):4526-31. doi: 10.3748/wjg.v16.i36.4526. World J Gastroenterol. 2010. PMID: 20857522 Free PMC article. Review.
The porphyries are a group of metabolic disorders characterized by deficiencies in the activity of enzymes involved in the biosynthesis of heme. In erythropoietic protoporphyria (EPP), in the majority of cases an autosomal dominant disease, there is a mutatio …
The porphyries are a group of metabolic disorders characterized by deficiencies in the activity of enzymes involved in the biosynthesis of h …
Liver transplantation in the management of porphyria.
Singal AK, Parker C, Bowden C, Thapar M, Liu L, McGuire BM. Singal AK, et al. Hepatology. 2014 Sep;60(3):1082-9. doi: 10.1002/hep.27086. Epub 2014 Jul 29. Hepatology. 2014. PMID: 24700519 Free PMC article. Review.
Liver transplantation (LT) may be needed for recurrent and/or life-threatening acute attack in acute intermittent porphyria or acute liver failure or end-stage chronic liver disease in erythropoietic protoporphyria. LT in acute intermittent porphyria is curative. …
Liver transplantation (LT) may be needed for recurrent and/or life-threatening acute attack in acute intermittent porphyria or acute liver f …
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Yasuda M, Chen B, Desnick RJ. Yasuda M, et al. Mol Genet Metab. 2019 Nov;128(3):320-331. doi: 10.1016/j.ymgme.2018.11.012. Epub 2018 Nov 30. Mol Genet Metab. 2019. PMID: 30594473 Free PMC article. Review.
The porphyrias are classified into three major categories: 1) the acute hepatic porphyrias (AHPs), including Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), and 5-Aminolevlulinic Acid Dehydratase Deficient Porphyria (ADP); 2) a hepat …
The porphyrias are classified into three major categories: 1) the acute hepatic porphyrias (AHPs), including Acute Intermittent Porphyria (A …
The molecular genetics of erythropoietic protoporphyria.
Elder GH, Gouya L, Whatley SD, Puy H, Badminton MN, Deybach JC. Elder GH, et al. Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):118-26. Cell Mol Biol (Noisy-le-grand). 2009. PMID: 19656460 Review.
Erythropoietic protoporphyria (EPP) is a syndrome in which accumulation of protoporphyrin IX in erythroid cells, plasma, skin and liver leads to acute photosensitivity and, in about 2% of patients, liver disease. More than 95% of unrelated patients have ferrochelata …
Erythropoietic protoporphyria (EPP) is a syndrome in which accumulation of protoporphyrin IX in erythroid cells, plasma, skin …
New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care.
Schneider-Yin X, Gouya L, Meier-Weinand A, Deybach JC, Minder EI. Schneider-Yin X, et al. Eur J Pediatr. 2000 Oct;159(10):719-25. doi: 10.1007/s004310000494. Eur J Pediatr. 2000. PMID: 11039124 Review.
Erythropoietic protoporphyria (EPP, MIM 177000) is an inherited disorder caused by a partial deficiency of ferrochelatase (FECH) which catalyses the chelation of iron into protoporphyrin to form haem. ...CONCLUSION: While covering the important clinical aspect of …
Erythropoietic protoporphyria (EPP, MIM 177000) is an inherited disorder caused by a partial deficiency of ferrochelatase (FEC …
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