Loricrin keratoderma: A cause of congenital ichthyosiform erythroderma and collodion baby

British Journal of Dermatology

Volumn 145, Issue 4, 2001, Pages 657-660

  Matsumoto, K ^a   Muto, M ^a   Seki, S ^a   Saida, T ^a   Horiuchi, N ^b   Takahashi, H ^c   Ishida Yamamoto, A ^c   Iizuka, H ^c  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Saku General Hospital   (Japan)

^c ASAHIKAWA MEDICAL COLLEGE   (Japan)

Author keywords

Collodion baby; Congenital ichthyosiform erythroderma; Loricrin keratoderma; Mutilating keratoderma; Pseudoainhum

Indexed keywords

LORICRIN; MEMBRANE PROTEIN;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; FEMALE; GENE EXPRESSION REGULATION; GENETICS; HUMAN; LAMELLAR ICHTHYOSIS; MALE; PATHOLOGY;

ADOLESCENT; CHILD; FEMALE; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; ICHTHYOSIS, LAMELLAR; MALE; MEMBRANE PROTEINS; MUTAGENESIS, INSERTIONAL;

EID: 0035487776     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2001.04412.x     Document Type: Article

References (17)

1. Vohwinkel KH. Keratoderma hereditaria mutilans. Arch Dermatol Syphilol 1929; 158: 354-64.
2. Maestrini E, Korge BP, Ocana-Sierra J et al. A missense mutation in connexin 26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Mol Genet 1999; 8: 1237-43.
3. Maestrini E, Monaco AP, McGrath JA et al. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nat Genet 1996; 13: 70-7.
4. Korge PE, Ishida-Yamamoto A, Pünter C et al. Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis. J Invest Dermatol 1997; 109: 604-11.
5. Takahashi H, Ishida-Yamamoto A. Kishi A et al. Loricrin gene mutation in a Japanese patient of Vohwinkel's syndrome. J Dermatol Sci 1999; 19: 44-7.
6. Armstrong DKB, McKenna KE, Hughes AE. A novel insertional mutation in loricrin in Vohwinkel's keratoderma. J Invest Dermatol 1998; 111: 702-4.
7. Ishida-Yamamoto A, McGrath JA, Lam H et al. The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope. Am J Hum Genet 1997; 61: 581-9.
8. Ishida-Yamamoto A, Kato H, Kiyama H et al. Mutant loricrin is not crosslinked into the cornified cell envelopes but is translocated into the nuclei in loricrin keratoderma. J Invest Dermatol 2000; 115: 1088-94.
9. Davis LG, Dibuer MD, Battle JF. Basic Methods in Molecular Biology. New York: Elsevier, 1986: 44-87.
10. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain termination method. Proc Natl Acad Sci USA 1997: 74: 5463-7.
11. Ishida-Yamamoto A, Iizuka H. Structural organization of cornified cell envelopes and alterations in inherited skin disorders. Exp Dermatol 1998; 7: 1-10.
12. Ishida-Yamamoto A, Takahashi H, Iizuka H. Loricrin and human skin disease: molecular basis of loricrin keratodermas. Histol Histopathol 1998; 13: 819-26.
13. Parmentier L, Lahkdar H, Blanchet-Bardon C et al. Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35. Hum Mol Genet 1996; 5: 555-9.
14. Fisher J, Fauer A, Bouadjar B et al. Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 19p12-q12 and evidence for further genetic heterogeneity. Am J Hum Genet 2000; 66: 904-13.
15. Rusell LJ, DiGiovanna JJ, Hashem N et al. Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q. Am J Hum Genet 1994; 55: 1146-52.
16. Rusell LJ, DiGiovanna JJ, Rogers GR et al. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 1995; 9: 279-83.
17. Suga Y, Jarnik M, Attar PS et al. Transgenic mice expressing a mutant form of loricrin reveal the molecular basis of the skin disease, Vohwinkel syndrome and progressive symmetric erythroderma. J Cell Biol 2000; 151: 401-12.