The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis

Clinical and Experimental Dermatology

Volumn 28, Issue 3, 2003, Pages 235-240

  Akiyama, M ^a   Sawamura, D ^a   Shimizu, H ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

ALOX12B GENE; ALOXE3 GENE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; DISEASE CLASSIFICATION; ENZYME ACTIVITY; GENE; GENE LOCUS; GENE MUTATION; GENODERMATOSIS; HISTOPATHOLOGY; HUMAN; ICHTHYOSIS; KERATINOCYTE; LAMELLAR ICHTHYOSIS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SKIN BIOPSY; SKIN DISEASE; TGM1 GENE;

DIAGNOSIS, DIFFERENTIAL; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; ICHTHYOSIS, LAMELLAR; SKIN;

EID: 0038115548     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2230.2003.01295.x     Document Type: Review

References (30)

1. Williams MLK, Lynch PJ. Generalized disorders of cornification: The ichthyoses. In: Sams, WM Jr, Lynch, PJ, eds. Principles and Practice of Dermatology, 2nd edn. New York, NY: Churchill Livingstone. 1996: 379-96.
2. Griffiths WAD, Judge MR et al. Disorders of keratinization. In: Champion, RH, Burton, JL, Burns, DA, Breathnach, SM, eds. Textbook of Dermatology, 6th edn. Oxford, London: Blackwell Science, 1998: 1483-588.
3. Akiyama M. Severe congenital ichthyosis of the neonate. Int J Dermatol 1998; 37: 722-8.
4. Williams ML, Elias PM. Heterogeneity in autosomal recessive ichthyosis. Arch Dermatol 1985; 121: 477-88.
5. Akiyama M, Takizawa Y, Suzuki Y, Shimizu H. A novel homozygous mutation 371delA in TGM1 leads to a classic lamellar ichthyosis phenotype. Br J Dermatol 2003; 148: 149-53.
6. Akiyama M, Takizawa Y, Suzuki Y et al. Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis. J Invest Dermatol 2001; 116: 992-5.
7. Laiho E, Niemi K-M, Ignatius J et al. Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis, Eur J Hum Genet 1999; 7: 625-32.
8. Akiyama M, Takizawa Y, Kokaji T, Shimizu H. Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. Br J Dermatol 2001; 144: 401-7.
9. Akiyama M. The pathogenesis of severe congenital ichthyosis of the neonate. J Dermatol Sci 1999; 21: 96-104.
10. Akiyama M, Shimizu H, Yoneda K, Nishikawa T. Collodion baby. ultrastructure and distribution of cornified cell envelope proteins and keratins. Dermatology 1997; 195: 164-8.
11. Arnold ML, Anton-Lamprecht I, Melz-Rothfuss B, Hartschuh W. Ichthyosis congenita, type III. Arch Dermatol Res 1988; 280: 268-78.
12. Niemi KM, Kanerva L, Kuokkanen K. Recessive ichthyosis congenita, type II. Arch Dermatol Res 1991; 283: 211-8.
13. Niemi KM, Kuokkanen K, Kanerva L, Ignatius J. Recessive ichthyosis congenita type IV. Am J Dermatopathol 1993; 15: 224-8.
14. Niemi KM, Kanerva L, Kuokkanen K, Ignatius J. Clinical, light and electron microscopic features of recessive congenita ichthyosis type 1. Br J Dermatol 1994; 130: 626-33.
15. De Wolf K, Gourdain JM, De Dobbeleer G, Song M. A particular subtype of ichthyosis congenita type III. Am J Dermatopathol 1995; 17: 606-11.
16. Parmentier L, Clepet C, Boughdene-Stambouli O et al. Lamellar ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus. Eur J Hum Genet 1999; 1: 77-87.
17. Virolainen E, Wessman M, Hovatta I et al. Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13. 1-P13 2 Am J Hum Genet 2000; 66: 1132-7.
18. Fischer J, Faure A, Bouadjar B et al. Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. Am J Hum Genet 2000; 66: 904-13.
19. Krebsova A, Kuster W, Lestringant GG et al. Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity. Am J Hum Genet 2001; 69: 216-22.
20. Huber M, Rettler I, Bernasconi K et al. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 1995; 267: 525-8.
21. Russell LJ, DiGiovanna JJ, Rogers GR et al. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nature Genet 1995; 9: 279-83.
22. Jobard F, Lefevre C, Karaduman A et al. 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 2002; 11: 107-13.
23. Hohl D, Aeschlimann D, Huber M. In vitro and rapid in situ transglutaminase assays for congenital ichthyoses - a comparative study. J Invest Dermatol 1998; 110: 268-71.
24. Raghunath M, Hennies HC, Velten F et al. A novel in situ method for the detection of deficient transglutaminase activity in the skin. Arch Dermatol Res 1998; 290: 621-7.
25. Huber M, Rettler I, Bernasconi K et al. Lamellar ichthyosis is genetically heterogeneous - cases with normal keratinocyte transglutaminase. J Invest Dermatol 1995; 105: 653-4.
26. Cserhalmi-Friedman PB, Milstone LM, Christiano AM. Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene. Br J Dermatol 2001; 144: 726-30.
27. Choate KA, Williams ML, Khavari PA. Abnormal transglutaminase 1 expression pattern in a subset of patients with erythrodermic autosomal recessive ichthyosis. J Invest Dermatol 1998; 110: 8-12.
28. Laiho E, Ignatius J, Mikkola H et al. Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. Am J Hum Genet 1997; 61: 529-38.
29. Hennies HC, Kuster W, Wiebe V et al. Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis. Am J Hum Genet 1998; 62: 1052-61.
30. Shevchenko YO, Compton JG, Toro JR et al. Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies. Hum Genet 2000; 106: 492-9.