Pachyonychia Congenita with Laryngeal Obstruction
Pachyonychia Congenita with Laryngeal Obstruction
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DOI：
10.1111/j.1525-1470.2011.01232.x
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发表时间：
2011-07-01
影响因子：
1.5
通讯作者：
Drummond, Derek
中科院分区：
文献类型：
--
作者：
Haber, Richard M.;Drummond, Derek
先天性厚甲症是一种罕见的遗传性皮肤病，可以影响喉。喉梗阻是非常罕见的，只有少数病例报告。摘要一名两岁女童在出生后不久即出现先天性厚甲症的典型临床表现。在9个月大时，在上呼吸道感染后，她出现喘鸣和声音嘶哑，并被发现有严重的喉梗阻，根据直接喉镜检查和喉活检，认为这是继发于先天性厚甲。她的喉部白细胞角化症用CO2激光治疗了三次，每次治疗后她的呼吸窘迫都有所改善。本报告是第一例先天性厚甲伴喉梗阻的病例，其中已确定基因突变（K6 a缺失突变），证实喉梗阻可发生在PC-1。
Pachyonychia congenita is a rare genodermatosis that can affect the larynx. Laryngeal obstruction is very unusual with only a few cases reported. A 2-year-old girl presented with typical clinical features of pachyonychia congenita shortly after birth. At age 9 months, following an upper respiratory infection, she developed stridor and hoarseness and was found to have severe laryngeal obstruction, which was felt to be secondary to pachyonychia congenita based on direct laryngoscopy and laryngeal biopsy. Leukokeratosis of her larynx was treated with CO2 laser on three occasions, with improvement in her respiratory distress after each treatment. This report is the first case of pachyonychia congenita with laryngeal obstruction in which the gene mutation has been established (a deletional mutation in K6a), confirming that laryngeal obstruction can occur in PC-1.