Cross-linked envelopes in nail plate in lamellar ichthyosis

British Journal of Dermatology

Volumn 149, Issue 5, 2003, Pages 1050-1054

  Rice, R H ^a   Crumrine, D ^b   Hohl, D ^c   Munro, C S ^d   Elias, P M ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^d SOUTHERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

Corneocytes; Transglutaminase 1; Transmission electron microscopy

Indexed keywords

DETERGENT; DODECYL SULFATE SODIUM; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CROSS LINKING; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; ELECTRON MICROSCOPY; EPIDERMIS; HAIR; HUMAN; HUMAN TISSUE; LAMELLAR ICHTHYOSIS; NAIL; PRIORITY JOURNAL; STRATUM CORNEUM; SYMPTOMATOLOGY; ULTRASTRUCTURE;

DIAGNOSIS, DIFFERENTIAL; EPIDERMIS; HUMANS; ICHTHYOSIS; ICHTHYOSIS, LAMELLAR; NAIL DISEASES; NAILS; SODIUM DODECYL SULFATE; SPECIMEN HANDLING; TRANSGLUTAMINASES;

EID: 0347382292     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2003.05510.x     Document Type: Article

References (19)

1. Daniel CR, Scher RK. Nail changes caused by systemic drugs or ingestants. Dermatol Clin 1985; 3: 491-500.
2. Samman PD, Fenton DA. The Nails in Disease. Oxford: Butterworth- Heinemann, 1995.
3. Fuchs E. Of mice and men: genetic disorders of the cytoskeleton. Mol Biol Cell 1997; 8: 189-203.
4. Winter H, Rogers MA, Langbein L et al. Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nat Genet 1997; 16: 372-4.
5. Bowden PE, Haley JL, Kansky A et al. Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nat Genet 1995; 10: 363-5.
6. McLean WHI, Rugg EL, Lunny DP et al. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet 1995; 9: 273-8.
7. Rice RH, Mehrpouyan M, Qin Q, Phillips MA. Transglutaminases in keratinocytes. In: The Keratinocyte Handbook (Leigh I, Lane B, Watt FM, eds). Cambridge: Cambridge University Press. 1994; 259-74.
8. Huber M, Rettler I, Bernasconi K et al. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 1995; 267: 525-8.
9. Russell 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.
10. Elias PM, Schmuth M, Uchida Y et al. Basis for the permeability barrier abnormality in lamellar ichthyosis. Exp Dermatol 2002; 11: 248-56.
11. Kuramoto N, Takizawa T, Takizawa T et al. Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1. J Clin Invest 2002; 109: 243-50.
12. Rice RH, Wong VJ, Pinkerton KE. Ultrastructural visualization of cross-linked protein features in epidermal appendages. J Cell Sci 1994; 107: 1985-92.
13. 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.
14. Korge BP, Ishida-Yamamoto A, Punter C et al. Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis. J Invest Dermatol 1997; 109: 604-10.
15. Rice RH, Wong VJ, Price VH et al. Cuticle cell defects in lamellar ichthyosis hair and anomalous hair shaft syndromes visualized after detergent extraction. Anat Rec 1996; 246: 433-40.
16. Kechijian P. Brittle fingernails. Dermatol Clin 1985; 3: 421-9.
17. Lefèvre C, Jobard F, Caux F et al. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet 2001; 69; 1002-12.
18. 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.
19. Jeon S, Djian P, Green H. Inability of keratinocytes lacking their specific transglutaminase to form cross-linked envelopes: absence of envelopes as a simple diagnostic test for lamellar ichthyosis. Proc Natl Acad Sci USA 1998; 95: 687-90.