Hereditary palmoplantar keratodermas. Part I. Non-syndromic palmoplantar keratodermas: classification, clinical and genetic features

Journal of the European Academy of Dermatology and Venereology : JEADV
L GuerraG Zambruno

Abstract

The term palmoplantar keratoderma (PPK) indicates any form of persistent thickening of the epidermis of palms and soles and includes genetic as well as acquired conditions. We review the nosology of hereditary PPKs that comprise an increasing number of entities with different prognoses, and a multitude of associated cutaneous and extracutaneous features. On the basis of the phenotypic consequences of the underlying genetic defect, hereditary PPKs may be divided into the following: (i) non-syndromic, isolated PPKs, which are characterized by a unique or predominant palmoplantar involvement; (ii) non-syndromic PPKs with additional distinctive cutaneous and adnexal manifestations, here named complex PPKs; (iii) syndromic PPKs, in which PPK is associated with specific extracutaneous manifestations. To date, the diagnosis of the different hereditary PPKs is based mainly on clinical history and features combined with histopathological findings. In recent years, the exponentially increasing use of next-generation sequencing technologies has led to the identification of several novel disease genes, and thus substantially contributed to elucidate the molecular basis of such a heterogeneous group of disorders. Here, we focus on hereditar...Continue Reading

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Citations

Sep 18, 2018·The British Journal of Dermatology·C Has
Nov 20, 2018·Genetic Testing and Molecular Biomarkers·Zhuang-Li TangXiao-Peng Wang
Nov 20, 2018·Journal of the European Academy of Dermatology and Venereology : JEADV·T NomuraH Shimizu
Oct 20, 2018·The British Journal of Dermatology·P YilmazC Has
Mar 19, 2019·The British Journal of Dermatology·R L WeinbergM J Caterina
Feb 13, 2020·International Journal of Dermatology·Wei-Xue JiaCheng-Rang Li
Jul 25, 2019·Indian Dermatology Online Journal·Tanvi DevGomathy Sethuraman
Apr 26, 2020·Contact Dermatitis·Klaziena PolitiekMarie L A Schuttelaar
Dec 31, 2020·International Journal of Dermatology·Yuanyuan ZhangChengrang Li
Apr 6, 2020·The Journal of Investigative Dermatology·Janan MohamadEli Sprecher
Apr 30, 2021·Journal of the European Academy of Dermatology and Venereology : JEADV·L HarjamaK Hannula-Jouppi
Sep 9, 2021·International Journal of Dermatology·Miguel Dominguez-SantasAna Suarez-Valle
Dec 29, 2020·Case Reports in Dermatology·Chankiat SongsantiphapVorasuk Shotelersuk

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