Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens [14]

British Journal of Dermatology

Volumn 158, Issue 1, 2008, Pages 191-194

  Tsubota, A ^a   Akiyama, M ^a   Sakai, K ^a   Yanagi, T ^a   McMillan, J R ^a   Higashi, A ^b   Shimizu, H ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b TOYAMA RED CROSS HOSPITAL   (Japan)

Author keywords

Epidermolytic hyperkeratosis; Granular degeneration; Ichthyosis; Palmoplantar keratoderma

Indexed keywords

ANAMNESIS; CASE REPORT; CLINICAL FEATURE; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; ELECTRON MICROSCOPY; FEMALE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; ICHTHYOSIS; ICHTHYOSIS BULLOSA OF SIEMEN; LETTER; PRIORITY JOURNAL; SKIN BIOPSY;

BASE SEQUENCE; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; EPIDERMIS; FEMALE; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; ICHTHYOSIS BULLOSA OF SIEMENS; INFANT, NEWBORN; KERATIN-1;

EID: 36849056522     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2007.08244.x     Document Type: Letter

References (10)

1. Smith F. The molecular genetics of keratin disorders. Am J Clin Dermatol 2003 4 : 347 64.
2. Lane EB, McLean WHI. Keratins and skin disorders. J Pathol 2004 204 : 355 66.
3. 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.
4. Rothnagel JA, Traupe H, Wojcik S et al. Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. Nat Genet 1994 7 : 485 90.
5. Kremer H, Zeeuwen P, McLean WHI et al. Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene. J Invest Dermatol 1994 103 : 286 9.
6. McLean WHI, Morley SM, Lane EB et al. Ichthyosis bullosa of Siemens - a disease involving keratin 2e. J Invest Dermatol 1994 103 : 277 81.
7. Akiyama M, Tsuji-Abe Y, Yanagihara M et al. Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing. Br J Dermatol 2005 152 : 1353 6.
8. Traupe H, Kolde G, Hamm H, Happle R. Ichthyosis bullosa of Siemens: a unique type of epidermolytic hyperkeratosis. J Am Acad Dermatol 1986 14 : 1000 5.
9. Yang JM, Nam K, Kim HC et al. A novel glutamic acid to aspartic acid mutation of the 2B rod domain in the keratin 1 chain in epidermolytic hyperkeratosis. J Invest Dermatol 1999 112 : 376 9.
10. Sun XK, Ma LL, Xie YQ et al. Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patient. J Dermatol Sci 2002 29 : 195 200.