References1 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.Conflicts of interest: none declared. Fig 1. A well-demarcated, erythematous plaque with firm woody oedema involving the cheeks, chin and anterior neck.