Hereditary benign intraepithelial dyskeratosis
Hereditary benign intraepithelial dyskeratosis
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DOI：
10.1007/s003470050335
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发表时间：
1998-10-01
期刊：
影响因子：
--
通讯作者：
Grossniklaus, HE
中科院分区：
文献类型：
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作者：
Dithmar, S;Stulting, RD;Grossniklaus, HE
背景：遗传性良性上皮内角化不良（HBID）是一种罕见的常染色体显性遗传性疾病。它的特点是双边角膜缘结膜斑块结合类似的变化，在口腔mucosa.Patient：一个II岁的非洲裔美国患者提出了双边慢性结膜炎，鼻和颞部角膜缘结膜斑块，和斑块的口腔粘膜，所有这些都抵制治疗。症状的发作是在幼儿期。结膜涂片、过敏试验、血液样本和内部检查都没有结果。组织学上，眼部病变表现为棘层增生、角化不全、角化过度和角化不良。结论：HBID的临床和组织学表现具有特征性。症状通常开始于幼儿期，并显示出一个盈亏过程。HBID首先在北卡罗来纳州的哈里瓦印第安人中发现。与此同时，HBID在美国其他地区和欧洲也有描述。由于这些患者与任何Haliwa印第安人都没有关系，因此被认为是新的突变。结膜或口腔病变的恶性变化尚未报告。
Background: Hereditary benign intraepithelial dyskeratosis (HBID) is a rare autosomal dominant disorder with incomplete penetrance. It is characterized by bilateral limbal conjunctival plaques combined with similar changes in the oral mucosa.Patient: An Ii-year-old African-American patient presented with bilateral chronic conjunctivitis, nasal and temporal limbal conjunctival plaques, and plaques of the oral mucosa, all of which resisted therapy. The onset of the symptoms was in early childhood. Conjunctival smears, allergy tests, blood samples and the internal examination were inconclusive. Histologically, the ocular lesions showed acanthosis, parakeratosis, hyperkeratosis and dyskeratosis. An infiltrate of chronic inflammatory cells was present beneath the intact epithelial basement membrane.Conclusions: The clinical and histological findings are characteristic of HBID. Symptoms usually start in early childhood and show a waxing and waning course. HBID was first seen among Haliwa Indians in North Carolina. In the meantime HBID has been described in other parts of the US and also in Europe. As these patients were not related to any of the Haliwa Indians, they are considered new mutations. Malignant changes of the conjunctival or oral lesions have not been reported.