Acquired erythropoietic protoporphyria as a result of myelodysplasia causing loss of chromosome 18

British Journal of Dermatology

Volumn 155, Issue 2, 2006, Pages 464-466

  Sarkany, R P E ^a   Ross, G ^a   Willis, F ^b  

^a ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Acquired; Chromosome 18; Ferrochelatase; Marrow; Myelodysplasia; Protoporphyria

Indexed keywords

FERROCHELATASE;

AGE DISTRIBUTION; AGED; ALLELE; ARTICLE; BONE MARROW; CASE REPORT; CHROMOSOME 18; CONGENITAL ERYTHROPOIETIC PORPHYRIA; DISEASE ASSOCIATION; ENZYME SYNTHESIS; FEMALE; GENE DELETION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; MOLECULAR CLONING; MYELODYSPLASIA; PATHOGENESIS; PHOTOSENSITIVITY; PORPHYRIA; PRIORITY JOURNAL;

AGED; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 18; FEMALE; FERROCHELATASE; HUMANS; KARYOTYPING; MYELODYSPLASTIC SYNDROMES; PROTOPORPHYRIA, ERYTHROPOIETIC;

EID: 33745912274     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2006.07318.x     Document Type: Article

References (18)

1. Aplin C, Whatley SD, Thompson P et al. Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells. J Invest Dermatol 2001; 117:1647-9.
2. Scott AJ, Ansford AJ, Webster BH, Stringer HC. Erythropoietic protoporphyria with features of a sideroblastic anaemia terminating in liver failure. Am J Med 1973; 54:251-9.
3. Shirota T, Yamamoto H, Hayashi S et al. Myelodysplastic syndrome terminating in erythropoietic protoporphyria after 15 years of aplastic anemia. Int J Hematol 2000; 72:44-7.
4. Lim HW, Cooper D, Sassa S et al. Photosensitivity, abnormal porphyrin profile, and sideroblastic anemia. J Am Acad Dermatol 1992; 27:287-92.
5. Rothstein G, Lee R, Cartwright GE. Sideroblastic anemia with dermal photosensitivity and greatly increased erythrocyte protoporphyrin. N Engl J Med 1969; 280:587-90.
6. Sato Y, Motoji T, Yamada O et al. A case of sideroblaslic anemia with dermal photosensitivity and increased erythrocyte protoporphyrin. Rinsho Ketsueki 1981; 22:1971-6 (Japanese).
7. Bottomley SS, Moore MZ. Acquired erythropoietic protoporphyria and sideroblastic anemia. Clin Res 1987; 35:38A [abstr.].
8. Takeda Y, Sawada H, Tashima M et al. Erythropoietic protoporphyria without cutaneous photosensitivity and with ringed sideroblasts in an atomic bomb survivor. Lancet 1996; 347:395-6.
9. Romslo I, Brun A, Sandberg S et al. Sideroblastic anemia with markedly increased free erythrocyte protoporphyrin without dermal photosensitivity. Blood 1982; 59:628-33.
10. Murphy GM, Hawk JL, Magnus IA. Late-onset erythropoietic protoporphyria with unusual cutaneous features. Arch Dermatol 1985; 121:1309-12.
11. Fallon JD, Kvedar JC, Margolis RJ, Pathak MA. Erythropoietic protoporphyria presenting in adulthood. Arch Dermatol 1989; 125:1286-7.
12. Kontos AP, Ozog D, Bichakjian C, Lim HW. Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year-old man: report of a case and review of the literature. Br J Dermatol 2003; 148:160-4.
13. Bottomly SS, Tanaka M, Everett MA. Diminished erythroid ferrochelatase activity in protoporphyria. J Lab Clin Med 1975; 86:126-31.
14. Bonkowsky HL, Bloomer JR, Ebert BS, Mahoney MJ. Haem synthetase deficiency in protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts. J Clin Invest 1975; 56:1139-48.
15. Gouya L, Puy H, Lamoril J et al. Inheritance in EPP: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation. Blood 1999; 93:2105-10.
16. Gouya L, Puy H, Robreau AM et al. The penetrance of dominant erythropoielic protoporphyria is modulated by expression of wildtype FECH. Nat Genet 2002; 30:27-8.
17. Steensma DP, Higgs DR, Fisher CA, Gibbons RJ. Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations. Blood 2004; 103:2019-26.
18. Fadigan A, Dailey HA. Inhibition of ferrochelatase during differentiation of murine erythroleukaemia cells. Biochem J 1987; 243:419-24.