Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia [3]

Journal of Investigative Dermatology

Volumn 127, Issue 11, 2007, Pages 2669-2673

  Natsuga, Ken ^a,b   Akiyama, Masashi ^a   Kato, Naoko ^b   Sakai, Kaori ^a   Sugiyama Nakagiri, Yoriko ^a   Nishimura, Machiko ^a   Hata, Hiroo ^a   Abe, Masataka ^a   Arita, Ken ^a   Tsuji Abe, Yukiko ^a   Onozuka, Takashi ^a   Aoyagi, Satoru ^a   Kodama, Kazuo ^a   Ujiie, Hideyuki ^b   Tomita, Yuki ^b   Shimizu, Hiroshi ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b CANCER INSTITUTE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABCA12 TRANSPORTER; CYCLOPHOSPHAMIDE; DOXORUBICIN; PREDNISONE; RETINOID; UNCLASSIFIED DRUG; VINCRISTINE;

ADULT; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL CULTURE; COMBINATION CHEMOTHERAPY; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; CONTROLLED STUDY; DNA SEQUENCE; ELECTRON MICROSCOPY; ERYTHRODERMA; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; KERATINOCYTE; LAMELLAR ICHTHYOSIS; LETTER; MALE; MELANOMA; MULTIPLE CYCLE TREATMENT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKIN CANCER; SKIN CARCINOGENESIS; SKIN LYMPHOMA;

ADULT; ATP-BINDING CASSETTE TRANSPORTERS; FEMALE; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; MALE; MUTATION; SKIN; SKIN NEOPLASMS;

EID: 35348813104     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5700885     Document Type: Letter

References (33)

1. Akiyama M, Sakai K, Sugiyama-Nakagiri Y, Yamanaka Y, McMillan JR, Sawamura D et al. (2006) Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity. J Invest Dermatol 126:1518-23
2. Akiyama M, Smith LT, Yoneda K, Holbrook KA, Hohl D, Shimizu H (1999) Periderm cells form cornified cell envelope in their regression process during human epidermal development. J Invest Dermatol 112:903-9
3. Akiyama M, Sugiyama-Nakagiri Y, Sakai K et al. (2005) Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest 115:1777-84
4. Akiyama M, Takizawa Y, Kobaji T, Shimizu H (2001) Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. Br J Dermatol 144:401-7
5. Akiyama M, Titeux M, Sakai K, McMillan JR, Tonasso L, Calvas P et al. (2007) DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences. J Invest Dermatol 127:568-73
6. Akiyama M (2006) Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms. J Dermatol Sci 42:83-9
7. Annilo T, Shulenin S, Chen ZQ et al. (2002) Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34. Cytogenet Genome Res 98:169-76
8. Arita K, Akiyama M, Tsuji Y, Iwao F, Kodama K, Shimizu H (2003) Squamous cell carcinoma in a patient with non-bullous congenital ichthyosiform erythroderma. Br J Dermatol 148:367-9
9. Becker K, Csikos M, Sardy M et al. (2003) Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma. Exp Dermatol 12:324-9
10. Elbaum DJ, Kurz G, MacDuff M (1995) Increased incidence of cutaneous carcinomas in patients with congenital ichthyosis. J Am Acad Dermatol 33:884-6
11. Grob JJ, Breton A, Bonafe JL, Sauvan-Ferdani M, Bonerandi JJ (1987) Keratitis, ichthyosis, and deafness (KID) syndrome. Vertical transmission and death from multiple squamous cell carcinomas. Arch Dermatol 123:777-82
12. Hazen PG, Carney P, Lynch WS (1989) Keratitis, ichthyosis, and deafness syndrome with development of multiple cutaneous neoplasms. Int J Dermatol 28:190-1
13. Hendrix JD Jr, Patterson JW, Greer KE (1997) Skin cancer associated with ichthyosis: the MAUIE syndrome. J Am Acad Dermatol 37:1000-2
14. Holleran WM, Takagi Y, Menon GK, Legler G, Feingold KR, Elias PM (1993) Processing of epidermal glucosylceramides is required for optimal mammalian cutaneous permeability barrier function. J Clin Invest 91:1656-64
15. Ishida-Yamamoto A, Simon M, Kishibe M, Miyauchi Y, Takahashi H, Yoshida S et al. (2004) Epidermal lamellar granules transport different cargoes as distinct aggregates. J Invest Dermatol 122:1137-44
16. Jobard F, Lefevre C, Karaduman A et al. (2002) Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet 11:107-13
17. Judge MR, McGibbon DH (1994) Ichthyosis hystrix and skin cancer. Clin Exp Dermatol 19:240-2
18. Kelsell DP, Norgett EE, Unsworth H et al. (2005) Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet 76:794-803
19. Kim KH, Kim JS, Piao YJ, Kim YC, Shur KB, Lee JH et al. (2002) Keratitis, ichthyosis and deafness syndrome with development of multiple hair follicle tumours. Br J Dermatol 147: 139-43
20. Krasagakis K, Ioannidou DJ, Stephanidou M, Manios A, Panayiotides JG, Tosca AD (2003) Early development of multiple epithelial neoplasms in Netherton syndrome. Dermatology 207:182-4
21. Laiho E, Ignatius J, Mikkola H et al. (1997) Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. Am J Hum Genet 61:529-38
22. Lefèvre C, Audebert S, Jobard F et al. (2003) Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet 12:2369-78
23. Lefèvre C, Bouadjar B, Ferrand V, Tadini G, Megarbane A, Lathrop M et al. (2006) Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum Mol Genet 15:767-76
24. Lefèvre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M et al. (2004) Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet 13: 2473-82
25. Madariaga J, Fromowitz F, Phillips M, Hoover HC Jr (1986) Squamous cell carcinoma in congenital ichthyosis with deafness and keratitis. A case report and review of the literature. Cancer 57:2026-9
26. Peelman F, Labeur C, Vanloo B, Roosbeek S, Devaud C, Duverger N et al. (2003) Characterization of the ABCA transporter subfamily: identification of prokaryotic and eukaryotic members, phylogeny and topology. J Mol Biol 325:259-74
27. Saghari S, Woolery-Lloyd H, Nouri K (2002) Squamous cell carcinoma in a patient with Netherton's syndrome. Int J Dermatol 41: 415-6
28. Stratigos J, Tsambaos D (1995) Ichthyosis hystrix and skin cancer. Clin Exp Dermatol 20:85
29. Thomas AC, Cullup T, Norgett EE et al. (2006) ABCA12 is the major harlequin ichthyosis gene. J Invest Dermatol 126:2408-13
30. van Steensel MA, van Geel M, Nahuys M, Smitt JH, Steijlen PM (2002) A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis- deafness syndrome. J Invest Dermatol 118:724-7
31. Vielhaber G, Pfeiffer S, Brade L, Lindner B, Goldmann T, Vollmer E et al. (2001) Localization of ceramide and glucosylceramide in human epidermis by immunogold electron microscopy. J Invest Dermatol 117:1126-36
32. Weber F, Fuchs PG, Pfister HJ, Hintner H, Fritsch P, Hoepfl R (2001) Human papillomavirus infection in Netherton's syndrome. Br J Dermatol 144:1044-9
33. Willemze R, Jaffe ES, Burg G et al. (2005) WHO-EORTC classification for cutaneous lymphomas. Blood 105:3768-85