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首页> 外文期刊>Journal of Investigative Dermatology Symposium Proceedings >Clinical and Pathological Features of Pachyonychia Congenita
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Clinical and Pathological Features of Pachyonychia Congenita

机译：先天性肺炎的临床和病理特征

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Pachyonychia congenita (PC) is a rare genodermatosis affecting the nails, skin, oral mucosae, larynx, hair, and teeth. Pathogenic mutations in keratins K6a or K16 are associated with the PC-1 phenotype whereas K6b and K17 mutations are associated with the PC-2 phenotype. Analysis of clinical, pathological, and genetic data from the literature and two research registries reveal that >97% of PC cases exhibit fingernail and toenail thickening, and painful plantar keratoderma. Prospective evaluation of 57 PC patients from 41 families revealed variable clinical findings: hyperhidrosis (79%), oral leukokeratosis (75%), follicular keratosis (65%), palmar keratoderma (60%), cutaneous cysts (35%), hoarseness or laryngeal involvement (16%), coarse or twisted hair (26%), early primary tooth loss (14%), and presence of natal or prenatal teeth (2%). Stratification of these data by keratin mutation confirmed the increased incidence of cyst formation and natal teeth among PC-2 patients, although cysts were more commonly seen in PC-1 than previously reported (25%–33%). Previously unreported clinical features of PC include development of painful oral and nipple lesions during breastfeeding, copious production of waxy material in ears, and inability to walk without an ambulatory aid (50%). Possible pathogenic mechanisms are discussed with respect to the clinicopathologic and genetic correlations observed.
机译：先天性肺炎（Pachyonychia congenita，PC）是一种罕见的遗传性皮肤病，会影响指甲，皮肤，口腔粘膜，喉，头发和牙齿。角蛋白K6a或K16中的致病突变与PC-1表型有关，而K6b和K17突变与PC-2表型有关。对来自文献和两个研究登记处的临床，病理和遗传数据的分析显示，> 97％的PC病例表现出指甲和脚趾甲增厚以及足底角化皮疼痛。对来自41个家庭的57位PC患者的前瞻性评估显示了多种临床表现：多汗症（79％），口腔白化病（75％），滤泡性角化病（65％），手掌性角膜病（60％），皮肤囊肿（35％），声音嘶哑或喉部受累（16％），粗发或扭曲的头发（26％），早期乳牙脱落（14％）以及出生或产前牙齿（2％）。通过角蛋白突变对这些数据进行分层证实了PC-2患者中囊肿形成和新生牙齿的发生率增加，尽管在PC-1中囊肿比以前报道的更为常见（25％–33％）。 PC以前未报告的临床特征包括在母乳喂养期间出现疼痛的口腔和乳头病变，耳朵中产生大量蜡状物质以及在没有卧床帮助的情况下无法行走（50％）。关于观察到的临床病理和遗传相关性，讨论了可能的致病机制。

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