Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in scandinavian patients

Journal of Investigative Dermatology

Volumn 130, Issue 2, 2010, Pages 438-443

  Vahlquist, Anders ^a   Bygum, Anette ^b   Gånemo, Agneta ^a   Virtanen, Marie ^a   Hellström Pigg, Maritta ^a   Strauss, Gitte ^c   Brandrup, Flemming ^b   Fischer, Judith ^d  

^a UPPSALA UNIVERSITY   (Sweden)

^b ODENSE UNIVERSITY HOSPITAL   (Denmark)

^c GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

^d DIF   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN ALOX12B; PROTEIN ALOXE3; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE; PYROXYLIN; UNCLASSIFIED DRUG;

ADULT; ANHIDROSIS; ARTICLE; CHILD; CLINICAL ARTICLE; DNA SEQUENCE; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; LAMELLAR ICHTHYOSIS; MALE; PALMOPLANTAR KERATODERMA; PRESCHOOL CHILD; PRIORITY JOURNAL; SCANDINAVIA; SCHOOL CHILD; SKIN EXFOLIATION; XEROSIS;

EID: 75549090184     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2009.346     Document Type: Article

References (24)

1. Brash AR, Yu Z, Boeglin WE, Schneider C (2007) The hepoxilin connection in the epidermis. FEBS J 274:3494-3502
2. Dahlqvist J, Klar J, Hausser I et al. (2007) Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. J Med Genet 44:615-620
3. Dean B (1921) A case of congenital ichthyosis. Science 53:356
4. Eckl KM, Krieg P, Küster W et al. (2005) Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat 26:351-361
5. Eckl KM, de Juanes S, Kurtenbach J et al. (2009) Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. J Invest Dermatol 129:1421-1428
6. Epp N, Furstenberger G, Muller K et al. (2007) 12R-lipoxygenase deficiency disrupts epidermal barrier function. J Cell Biol 177:173-182
7. Farasat S, Wei MH, Herman M et al. (2009) Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet 46:103-111
8. Fischer J (2009) Autosomal recessive congenital ichthyosis. J Invest Dermatol 129:1319-1321
9. Frenk E, de Techtermann F (1992) Self-healing collodion baby: evidence for autosomal recessive inheritance. Pediatr Dermatol 9:95-97
10. Ganemo A, Pigg M, Virtanen M et al. (2003) Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eighty-three patients. Acta Derm Venereol 83:24-30
11. Harting M, Brunetti-Pierri N, Chan CS et al. (2008) Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. Arch Dermatol 144:351-356
12. Hernandez-Martin A, Gonzalez-Sarmiento R, De Unamuno P (1999) X-linked ichthyosis: an update. Br J Dermatol 141:617-627
13. Hoyer H, Lykkesfeldt G, Ibsen HH, Brandrup F (1986) Ichthyosis of steroid sulphatase deficiency. Clinical study of 76 cases. Dermatologica 172: 184-190
14. Huber M, Rettler I, Bernasconi K et al. (1995) Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 267:525-528
15. 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 11:107-113
16. Lefevre C, Audebert S, Jobard F et al. (2003) Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet 12:2369-2378
17. Lefevre C, Bouadjar B, Ferrand V et al. (2006) Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum Mol Genet 15:767-776
18. Lefevre C, Bouadjar B, Karaduman A et al. (2004) Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet 13:2473-2482
19. Lesueur F, Bouadjar B, Lefevre C et al. (2007) Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. J Invest Dermatol 127:829-834
20. Pigg M, Gedde-Dahl T Jr, Cox D, Hausser I, Anton-Lamprecht I, Dahl N (1998) Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway. Eur J Hum Genet 6:589-596
21. Raghunath M, Hennies HC, Ahvazi B et al. (2003) Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. J Invest Dermatol 120:224-228
22. Russell LJ, DiGiovanna JJ, Rogers GR et al. (1995) Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 9:279-283
23. Vahlquist A, Ganemo A, Pigg M, Virtanen M, Westermark P (2003) The clinical spectrum of congenital ichthyosis in Sweden: a review of 127 cases. Acta Derm Venereol Suppl 213:34-47
24. Van Gysel D, Lijnen RL, Moekti SS, de Laat PC, Oranje AP (2002) Collodion baby: a follow-up study of 17 cases. J Eur Acad Dermatol Venereol 16:472-475