Clinical and pathological features of pachyonychia congenita
Clinical and pathological features of pachyonychia congenita
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DOI：
10.1111/j.1087-0024.2005.10202.x
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发表时间：
2005-10-01
影响因子：
--
通讯作者：
Lane, EB
中科院分区：
文献类型：
--
作者：
Leachman, SA;Kaspar, RL;Lane, EB
先天性厚甲症 (PC) 是一种罕见的遗传性皮肤病，影响指甲、皮肤、口腔粘膜、喉、头发和牙齿。角蛋白 K6a 或 K16 的致病性突变与 PC-1 表型相关，而 K6b 和 K17 突变与 PC-2 表型相关。对文献和两个研究登记处的临床、病理和遗传数据的分析表明，> 97% 的 PC 病例表现出手指甲和脚趾甲增厚以及疼痛的足底角化病。对来自 41 个家庭的 57 名 PC 患者的前瞻性评估揭示了不同的临床表现：多汗症 (79%)、口腔白细胞角化症 (75%)、毛囊角化症 (65%)、掌角皮病 (60%)、皮肤囊肿 (35%)、声音嘶哑或喉部受累 (16%)、毛发粗糙或扭曲 (26%)、早期乳牙脱落 (14%)，以及是否有出生或产前牙齿(2%)。通过角蛋白突变对这些数据进行分层证实了 PC-2 患者中囊肿形成和出生牙的发生率增加，尽管囊肿在 PC-1 中比之前报道的更为常见 (25%-33%)。以前未报道的 PC 临床特征包括母乳喂养期间出现疼痛的口腔和乳头病变、耳朵中大量产生蜡状物质以及在没有移动辅助设备的情况下无法行走 (50%)。根据观察到的临床病理学和遗传相关性讨论了可能的致病机制。
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.