Epidermolytic hyperkeratosis

International Journal of Dermatology

Volumn 35, Issue 8, 1996, Pages 579-581

  Otley, Clark C ^a   Gellis, Stephen ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANALGESIC AGENT; OXACILLIN; PSEUDOMONIC ACID;

ARTICLE; CASE REPORT; FEMALE; HUMAN; HYPERKERATOSIS; NEWBORN;

EID: 0029785698     PISSN: 00119059     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-4362.1996.tb03662.x     Document Type: Article

References (18)

1. Rothnagel JA, Longley MA, Holder RA, et al. Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing. J Invest Dermatol 1994; 102:13-16.
2. Mali JWH, Bergers AMG, van den Hurk JJMA, et al. A lysosomal storage disorder of the epidermis characterized by a deficiency of α-mannosidase and an accumulation of mannose-rich materials. Br J Dermatol 1976; 95:627-630.
3. Ogawa H, Hattori M, Ishibashi Y. Abnormal fibrous protein isolated from the stratum corneum of a patient with bullous congenital ichthyosiform erythroderma (BCIE). Arch Dermatol Res 1979; 266:109-116.
4. Ogawa H, Yoshiike T. Biochemical analysis of palmoplantar keratosis. In: Schnyder UW, ed. Proceedings of the XVI International Congress of Dermatology. Tokyo: University of Tokyo Press, 1982:426-429.
5. Ishida-Yamamoto A, McGrath JA, Chapman SJ, et al. Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin filament network involving keratins K5 and K14. J Invest Dermatol 1991; 97:959-968.
6. Ishida-Yamamoto A, McGrath JA, Judge MR, et al. Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). J Invest Dermatol 1992; 99:19-26.
7. Compton JG, DiGiovanna JJ, Santucci SK, et al. Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q. Nature Genetics 1992; 1:301-305.
8. Bonifas JM, Bare JW, Chen MA, et al. Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12. J Invest Dermatol 1992; 99:524-527.
9. Cheng J, Syder AJ, Yu QC, et al. The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. Cell 1992; 70:811-819.
10. Coulombe PA, Hutton ME, Letai A, et al. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analysis. Cell 1991; 66:1301-1311.
11. Fuchs E, Esteves RA, Coulombe PA. Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis. Proc Natl Acad Sci USA 1992; 89:6906-6910.
12. Chipev CC, Korge BP, Markova N, et al. A leucine to proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell 1992; 70:821-828.
13. Chipev CC, Yang JM, DiGiovanna JJ, et al. Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis. Am J Hum Genet 1994; 54:179-190.
14. Yang JM, Chipev CC, DiGiovanna JJ, et al. Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis. J Invest Dermatol 1994; 102:17-23.
15. Rothnagel JA, Dominey AM, Dempsey LD, et al. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science 1992; 257:1128-1130.
16. McLean WHI, Eady RAJ, Leigh I, et al. A point mutation in the helix 1A of keratin 1 creates a mae III RFLP and causes BCIF/EHK. J Invest Dermatol 1993; 100:516.
17. McLean WHI, Eady RAJ, Dopping-Hepenstal PJC, et al. Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). J Invest Dermatol 1994; 102:24-30.
18. Fuchs E. Genetic skin disorders of keratin. J Invest Dermatol 1992; 99:671-674.