Pachyonychia Congenita - Can a Specific Phenotype be a Clue to a Genetic Defect? - a Case Report and Literature Review

Serbian Journal of Dermatology and Venereology Pub Date : 2017-09-01 DOI:10.1515/sjdv-2017-0012

J. Lalošević, M. Gajić‐Veljic, J. Stojkovic-Filipovic, Martina Bosic, M. Nikolic

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Abstract

Abstract Pachyonychia congenita (PC) is a rare inherited disorder of keratinization characterized by hypertrophic nail dystrophy, painful palmoplantar blisters, cysts, follicular hyperkeratosis and oral leukokeratosis. These pathological clinical features are resulting from mutations in keratin proteins including KRT6A, KRT6B, KRT6C, KRT16, and KRT17. We present a 6-year-old girl with hypertrophic nail dystrophy, follicular hyperkeratosis, circumscribed plantar keratoderma and oral leukokeratosis. The features were consistent with the diagnosis of PC. The patient has been registered in the International Pachyonychia Congenita Research Registry (IPCRR) and is waiting for a detailed genetic analysis. The IPCRR has contributed to publication of numerous papers which emphasized the importance of the mutation type affecting various clinical presentations of PC. Based on recent data, a new classification system has been developed for PC, and it is gradually replacing the earlier classifications. It is based almost exclusively on the mutated genes. In this report we have raised the hypothesis that distinctive clinical features may be highly suggestive of a specific keratin mutation.

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先天性厚甲沟炎-一个特定的表型能成为遗传缺陷的线索吗？-病例报告及文献综述

摘要先天性厚甲沟炎（PC）是一种罕见的遗传性角化障碍，其特征是肥大性指甲营养不良、疼痛性掌跖水泡、囊肿、毛囊角化过度和口腔白细胞角化。这些病理临床特征是由角蛋白突变引起的，包括KRT6A、KRT6B、KRT6C、KRT16和KRT17。我们报告了一名患有肥大性指甲营养不良、毛囊性角化过度、局限性足底角化病和口腔白细胞角化症的6岁女孩。这些特征与PC的诊断一致。该患者已在国际先天性厚甲沟炎研究注册中心（IPCRR）注册，正在等待详细的基因分析。IPCRR帮助发表了许多论文，强调突变类型对PC各种临床表现的影响的重要性。根据最近的数据，已经为PC开发了一个新的分类系统，它正在逐渐取代早期的分类。它几乎完全基于突变基因。在这份报告中，我们提出了一个假设，即独特的临床特征可能高度提示特定的角蛋白突变。

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Serbian Journal of Dermatology and Venereology

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期刊介绍： Serbian Journal of Dermatology and Venereology is a journal of the Serbian Association of Dermatologists and Venereologists. The journal is published in English, quarterly and intended to provide rapid publication of papers in the field of dermatology and venereology. Manuscripts are welcome from all countries in the following categories: editorials, original studies, review articles, professional articles, case reports, and history of medicine.