A young girl with progressive symmetrical erythrokeratoderma and short height
Keywords:
Short height, loricrin, progressive symmetrical erythrokeratodermaAbstract
Progressive symmetrical erythrokeratoderma is an uncommon genodermatosis and is thought to arise due to mutations in the connexin gene. However, genetic heterogeneity has been described. We report a case of progressive symmetrical erythrokeratoderma, with short height.ÂReferences
Ruiz-Maldonado R, Tamayo L, del Castillo V, Lozoya I. Erythrokeratodermia progressiva symmetrica: Report of 10 cases. Dermatologica. 1982;164:133-41.
Chu DH, Arroyo MP. Progressive and symmetric erythrokeratoderma. Dermatol Online J. 2003;9:21.
Ghorpade A, Ramanan C. Progressive symmetric erythrokeratoderma. Indian J Dermatol Venereol Leprol. 1995;61:116-7.
Khoo BP, Tay YK, Tan SH. Generalized erythematous plaques. Progressive symmetric erythrokeratodermia (PSEK) (erythrokeratodermia progressiva symmetrica). Arch Dermatol. 2000;136:665-8.
Storck H, Schwarz K, Schnyder UW. Krankendemonstration in der Dermatologischen Klinik Zürich. Arch Klin Exp Dermatol. 1964;219:946-1032.
Ishida-Yamamoto A, McGrath JA, Lam H et al. The molecular pathology of progressive symmetric erythrokeratoderma: A frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope. Am J Hum Genet. 1997;61:581-9.
Wei S, Zhou Y, Zhang TD et al. Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia. Clin Exp Dermatol. 2011;36:399-405.
Richard G, Whyte YM, Smith L et al. Linkage studies in erythrokeratodermias: Fine mapping, genetic heterogeneity, and analysis of candidate genes. J Invest Dermatol. 1997;109:666-71.
Richard G, Brown N, Rouan F et al. Genetic heterogeneity in erythrokeratodermia variabilis: Novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. J Invest Dermatol. 2003;120:601-9.
Van Steensel MA, Oranje AP, van der Schroeff JG et al. The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive erythrokeratodermia of Gottron. Am J Med Genet A. 2009;149A:657-61.
Akman A, Masse M, Mihci E et al. Progressive symmetrical erythrokeratoderma: report of a Turkish family and evaluation for loricrin and connexin gene mutations. Clin Exp Dermatol. 2008;33:582-4.
Lodén M. The clinical benefit of moisturizers. J Eur Acad Dermatol Venereol. 2005;19:672-88.
TÃ moyo L, Ruiz-Maldonado R. Oral retinoid (RO 10-9359) in children with lamellar ichthyosis, epidermal hyperkeratosis and symmetrical progressive erythrokeratodermia. Dermatologica. 1980;161:305-14.