Trichothiodystrophy, complementation group A complicated with squamous cell carcinoma.
Trichothiodystrophy, complementation group A complicated with squamous cell carcinoma.
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毛发硫营养不良，互补A组并发鳞状细胞癌。
DOI：
10.1111/jdv.14531
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发表时间：
2018
影响因子：
9.2
通讯作者：
Akiyama M.
中科院分区：
文献类型：
--
作者：
Takeichi T;Tomimura S;Okuno Y;Hamada M;Kono M;Sugiura K;Akiyama M.
有三种相关的，临床定义的DNA修复疾病：着色性干皮病（XP），毛硫营养不良（TTD）和科克因综合征（CS）。1光敏性、神经/发育异常和皮肤癌是重要的病理特征，可用于区分这三种原型。TTD是一种罕见的常染色体隐性遗传病，以脆性、缺硫头发和多系统异常为特征。3一般TFIIH亚基5 （GTF2H5）基因，GTF2H5，已知是TTD的致病基因，补体组a （TTDA, OMIM# 616395）。5例TTDA突变患者均未出现皮肤癌（表1）。4-6在这里，我们描述了一例日本男性TTDA合并鳞状细胞癌（SCC）的GTF2H5复发突变。这名先证者是一名44岁的日本男子，是亲缘父母所生的四个兄弟姐妹中最大的一个。15岁时，左感音神经性耳聋。检查时，他的头发短而有些脆，没有毛少（图1a）。患者发现面部、躯干和四肢普遍结垢，掌跖角化病（图1b）。病变皮肤活检显示角化过度、棘皮增生和变薄的颗粒层（图1g）。光镜和扫描电镜显示毛发表面异常、不规则（图1d， e）。他身材矮小（-4.2标准差），体重正常。其他正常或阴性
There are three related, clinically defined disorders of DNA repair: xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS). 1 Photosensitivity, neurological/developmental abnormalities, and skin cancer are important pathological features that can be used to distinguish between these three archetypes. 1, 2 TTD is a rare, autosomal recessive disease characterized by brittle, sulfur-deficient hair and multisystem abnormalities. 3 The general TFIIH subunit 5 (GTF2H5) gene, GTF2H5, is known to be a causative gene of TTD, complementation group A (TTDA, OMIM# 616395). None of five patients with mutations in TTDA showed skin cancers (Table 1). 4-6 Here, we describe a recurrent mutation in GTF2H5 in a Japanese male suffering from TTDA complicated with squamous cell carcinoma (SCC). The proband is a 44-year-old Japanese man, the oldest of four siblings born to related parents. At the age of 15 years, left sensorineural deafness was noted. On examination, he had short and somewhat brittle hair, with no hypotrichosis (Fig. 1a). He was found to have generalized scaling on the face, trunk and extremities, and palmoplantar keratoderma (Fig. 1b). A lesional skin biopsy revealed hyperkeratosis, acanthosis and thinned granular layers (Fig. 1g). Light microscopy and scanning electron microscopy demonstrated abnormal, irregular hair surfaces (Fig. 1d, e). He has short stature (-4.2 standard deviations) with normal weight. Other normal or negative