Homozygous erythropoietic protoporphyria with porokeratosis;PROTOPORPHYRIE ERYTHROPOIETIQUE HOMOZYGOTE ASSOCIEE A UNE POROKERATOSE

Annales de Dermatologie et de Venereologie

Volumn 123, Issue 6-7, 1996, Pages 382-386

  Philippot, V ^a   Berard F ^a   Perrot, H ^a  

^a HÔTEL DIEU   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FERROCHELATASE; PROTOPORPHYRIN;

ADOLESCENT; ARTICLE; CASE REPORT; CONGENITAL ERYTHROPOIETIC PORPHYRIA; ENZYME ACTIVITY; HOMOZYGOSITY; HUMAN; MALE; MUTATION; PHOTOSENSITIVITY; PHOTOTOXICITY; POROKERATOSIS; GENETICS; HOMOZYGOTE; METABOLISM; PATHOLOGY; PEDIGREE; PHOTOSENSITIVITY DISORDER; SKIN DISEASE;

ADOLESCENT; FACIAL DERMATOSES; FERROCHELATASE; HOMOZYGOTE; HUMANS; MALE; PEDIGREE; PHOTOSENSITIVITY DISORDERS; POROKERATOSIS; PORPHYRIA, ERYTHROPOIETIC; PROTOPORPHYRINS;

EID: 0029947840     PISSN: 01519638     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

1. Tood DJ. Erythropoietic protoporphyria. Br J Dermatol 1994;131:751-66.
2. Bloomer JR. Characterization of deficient heme synthase activity in protoporphyria with cultured skin fibroblasts. J Clin Invest 1980;65:321-8.
3. Deybach JC, Da Silva Y, Pasquier Y, Nordmann Y. Ferrochelatase in human erythropoietic protoporphyria: the first case of a homozygous form of the enzyme deficiency. In: Porphyrins and porphyrias. Y. Nordmann Edit., INSERM John Libbey Eurotest 1986, vol. 134, p. 163-73.
4. Lamoril J, Boulechfar S, de Verneuil H, Grandchamp B, Nordmann Y, Deybach JC. Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene. Biochem Biophys Res Comm 1991;181:594-9.
5. Norris PG, Nunn A, Hawk JLM, Cox TM. Genetic heterogeneity in erythropoietic protoporphyria: a study of the enzymatic defect in nine affected families. J Invest Dermatol 1990;95:260-3.
6. Whitcombe DM, Carter NP, Albertson DG, Cox TM. Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22. Genomics 1991;11:1152-4.
7. Brenner DA, Didier JM, Frasier F, Dailey HA. A molecular defect in human protoporphyria. Am J Hum Genet 1992;50: 1203-10.
8. Straka JG, Hill HD, Krikava M, Bloomer JR. Immunochemical studies of ferrochelatase protein: characterization of the normal and mutant protein in bovine and human protoporphyria. Am J Hum Genet 1991;48:72-8.
9. Nakahashi Y, Taketani S, Kappas A, Sassa S. The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria. Proc Natl Acad Sci USA 1992;89:281-5.
10. Nakahashi Y, Miyazaki H, Kadota Y, Taketani S. Molecular defect in human erythropoietic protoporphyria with fatal liver failure. Hum Genet 1993;91:303-6.
11. Scappaticci S, Lambiase S, Orecchia G, Fraccaro M. Clonal chromosome abnormalities with preferential involvement of chromosome 3 in patients with porokeratosis of Mibelli. Cancer Genet Cytogenet 1989;43:89-94.
12. Reed RJ, Leone P. Porokeratosis. A mutant clonal keratosis of the epidermis. I Histogenesis. Arch Dermatol 1970;101:340-7.
13. Ito M, Fujiwara H, Maruyama T, Oguro K, Ishihara OK, Sato Y. Morphogenesis of the cornoid lamella: histochemical, immuno-histochemical and ultrastructural study of porokeratosis. J Cutan Pathol 1991;18:247-56.
14. Magée JW, Mc Calmont TH, Le Boit PE. Over expression of p53 tumor suppressor protein in porokeratosis. Arch Dermatol 1994;130:187-90.
15. Otsuka F, Shima A, Ishibashi Y. Porokeratosis as a premalignant condition of the skin. Cytologic demonstration of abnormal DNA ploidy in cells of the epidermis. Cancer 1989;63:891-6.
16. Takeshita T., Higurashi M., Otsuka F. Elevated chromosome aberration frequency after X-ray exposure of cultured fibroblasts derived from patients with porokeratosis. Cancer Genet Cytogenet 1994;73:161-4.
17. Bencini PL, Tarantino A, Grimait R, Ponticelli C, Caputo R. Porokeratosis and immunosuppression. Br J Dermatol 1995;132:74-8.
18. Raychaudhuri SP, Smoller BR. Porokeratosis in immunosuppressed and nonimmunosuppressed patients. Int J Dermatol 1992;31:781-2.
19. Manganoni AM, Facchitti F, Gavazzoni R. Involvement of epidermal Langerhans cells in porokeratosis of immunosuppressed renal transplant recipients. J Am Acad Dermatol 1989;21:799-801.
20. Chernosky ME, Anderson DE. Disseminated superficial actinic porokeratosis: clinical studies and experimental production of lesions. Arch Dermatol 1960;99:401-7.
21. Cockerel CJ. Induction of disseminated superficial actinic porokeratosis by phototherapy for psoriasis. J Am Acad Dermatol 1991;24:301.
22. Hazen PG, Carney JF, Walker AE. Disseminated superficial porokeratosis: appearance associated with photochemotherapy for psoriasis. J Am Acad Dermatol 1985;12:1077-8.