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X‐N. Zhang, X‐H. He, Z. Lai, W‐G. Yin, Y‐P. Le, J‐M. Guo, W. Mao, X‐L. He, J‐C. Li, An insertion‐deletion mutation in keratin 9 in three Chinese families with epidermolytic palmoplantar keratoderma, British Journal of Dermatology, Volume 152, Issue 4, 1 April 2005, Pages 804–806, https://doi.org/10.1111/j.1365-2133.2005.06477.x
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Conflicts of interest: none declared.
Sir, Epidermolytic palmoplantar keratoderma (EPPK; MIM 144200) is an autosomal dominantly inherited skin disorder characterized clinically by a diffuse pattern of severe hyperkeratosis limited to the palms and soles and histologically by suprabasal epidermolysis. Keratin 9 gene (KRT9) mutations have been found in most cases of EPPK,1, 2 and two mutations in the keratin 1 gene have been reported to cause mild EPPK and atypical EPPK.3, 4 Keratins possess a common structure consisting of a central α‐helical rod domain flanked by nonhelical head and tail domains. The rod domain is divided into four coils (1A, 1B, 2A and 2B) separated by nonhelical linkers (L1, L12 and L2). At the start and end of the rod domain there are two short highly conserved regions, the helix initiation motif (HIM) and the helix termination motif, in which most causative mutations occur.2, 5 Molecular defects in these regions may alter keratin filaments, and may interfere with the integrity of keratinocytes or epithelial cells.6, 7
