Lamellar ichthyosis: Response to etretinate with transglutaminase 1 recovery

American Journal of Dermatopathology

Volumn 22, Issue 3, 2000, Pages 277-280

  Hashimoto, Ken ^a,b   Gee, Suzanne ^a   Tanaka, Kazuaki ^a  

^a WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b DETROIT RECEIVING HOSPITAL   (United States)

Author keywords

Electron microscopy; Etretinate; Immunohistochemistry; Lamellar ichthyosis; Transglutaminase 1

Indexed keywords

ETRETINATE; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

ADULT; ARTICLE; CASE REPORT; ELECTRON MICROSCOPY; FEMALE; HUMAN; IMMUNOHISTOCHEMISTRY; LAMELLAR ICHTHYOSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; SKIN BIOPSY;

ADULT; ETRETINATE; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; HUMANS; ICHTHYOSIS, LAMELLAR; KERATOLYTIC AGENTS; SKIN; TRANSGLUTAMINASES;

EID: 0034091495     PISSN: 01931091     EISSN: None     Source Type: Journal    
DOI: 10.1097/00000372-200006000-00014     Document Type: Article

References (18)

1. Anton-Lamprecht I. Skin. In: Papadimitrou J, Henderson D, Spagnolo D, eds. Diagnostic ultrastructure of non-neoplastic diseases. Edinburgh: Churchill Livingstone, 1992:459-550.
2. Williams M, Elias P. Heterogeneity in autosomal recessive ichthyosis: clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. Arch Dermatol 1985;121:477-88.
3. Russell LJ, DiGiovanna JJ, Rogers GR. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 1995;9:279-83.
4. Hashimoto K. The marginal band. A demonstration of the thickened cellular envelope of the human nail cell with the aid of Lanthanum staining. Arch Dermatol 1971;103:387-93.
5. Hashimoto K. Cellular envelopes of keratinized cells of the human epidermis. Arch Klin Emp Dermatol 1969;235:374-85.
6. Huber M, Rettler I, Bernasconi K, Wyss M, Hohl D. Lamellar ichthyosis is genetically heterogeneous. Cases with normal keratinocyte transglutaminase. J Invest Dermatol 1995;105:653-4.
7. Hohl D, Huber M, Frenk E. Analysis of the cornified cell envelope in lamellar ichthyosis. Arch Dermatol 1993;129:618-24.
8. Lavrijsen AP, Maruyama T. Absent transglutaminase TGK expression in two of three patients with lamellar ichthyosis. Arch Dermatol 1995;131:363-4.
9. Russell LJ, DiGiovanna JJ, Hashem N, Compton JG, Bale SJ. Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q. Am J Hum Genet 1994;55:1146-52.
10. Matsuki M, Yamashita F, Ishida-Yamamoto A, Yamada K, Kinoshita C, Fukushi S, et al. Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase). Proc Natl Acad Sci USA 1998;95:1044-9.
11. Bichakjian CK, Nair RP, Wu WW, Goldberg S, Elder JT. Prenatal exclusion of lamellar ichthyosis based on identification of two new mutations in the transglutaminase 1 gene. J Invest Dermatol 1998; 110:179-82.
12. Hohl D, de Viragh PA, Amiguet-Barras F, Gibbs S, Backendorf C, Huber M. The small proline-rich proteins constitute a multigene family of differentially regulated cornified cell envelope precursor proteins. J Invest Dermatol 1995;104:902-9.
13. Mischke D, Korge BP, Marenholz I, VoIz A, Ziegler A. Genes encoding structural proteins of epidermal cornification and S100 calcium-binding protein form a gene complex ("epidermal differentiation complex") on human chromosome 1q21. J Invest Dermatol 1996;106:989-92.
14. Mangelsdorf D, Umesono K, Evans RM. The retinoid receptors. In: Sporn MB, Roberts AB, Goodman DS, eds. The retinoids, biology, chemistry and medicine. 2nd ed. New York: Raven Press, 1994:319-49.
15. Sandler B, Hashimoto K. Collodion baby and lamellar ichthyosis. J Cutan Pathol 1998;25:116-21.
16. Korge BP, Healy E, Munro CS, Punter C, Birch-Machin M, Holmes SC, et al. A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients. J Invest Dermatol 1998;111:896-9.
17. Hashimoto K, Eng AM. Transient bullous dermolysis of the newborn. Retention of anchoring fibril- and basal lamina-like structures in keratinocytes and evidence of collagenolysis. J Cutan Pathol 1992;19:496-501.
18. Hammami-Hauasli N, Raghunath M. Kuster W. Bruckner-Tuderman L. Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations. J Invest Dermatol 1998;111:1214-9.