Novel and recurrent keratin 6A (KRT6A) mutations in Chinese patients with pachyonychia congenita type 1
BRITISH JOURNAL OF DERMATOLOGY
Authors: Lv, Y. M.; Yang, S.; Zhang, Z.; Cui, Y.; Quan, C.; Zhou, F. S.; Fang, Q. Y.; Du, W. H.; Zhang, F. R.; Chang, J. M.; Tao, X. P.; Zhang, A. L.; Kang, R. H.; Du, W. D.; Zhang, X. J.
Abstract
Pachyonychia congenita and Steatocystoma multiplex due to Mutation in the Keratin 17 Gene
AKTUELLE DERMATOLOGIE
Authors: Herz, C.; Wobser, M.; Fischer, J.; Hamm, H.
Abstract
Pachyonychia congenita (PC) is caused by heterozygous mutations in the keratin genes KRT6A, KRT6B, KRT6C, KRT16 or KRT17. The historical distinction of PC type 1 and PC type 2 based on clinical findings was left in favor of the recent classification according to the mutated gene (PC-K6a, PC-K6b, PC-K6c, PC-K16, PC-K17). The genodermatosis is transmitted in an autosomal dominant mode of inheritance, spontaneous mutations are responsible for about 30% of cases. More than 97% of affected patients suffer from the typical triad of nail hypertrophy, plantar keratoderma und plantar pain. Localized pilosebaceous cysts, vellus hair cysts or widespread steatocystoma multiplex are typical findings in PC due to mutations in the keratin 17 gene. Further findings include natal or perinatal teeth and follicular keratoses on trunk, elbows and knees. We report a 40-year-old female presenting with steatocystoma multiplex, thickening and distal dystrophy of all nails, painful plantar keratoses and palmoplantar hyperhidrosis. Mutation analysis by next-generation sequencing revealed a causative mutation in exon 1 of the KRT17 gene.
COA
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