Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome
Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome
复制标题
DOI：
10.1038/gim.2012.96
复制
发表时间：
2013-01-01
影响因子：
8.8
通讯作者：
Bale, Sherri J.
中科院分区：
文献类型：
--
作者：
Kimonis, Virginia E.;Singh, Kathryn E.;Bale, Sherri J.
目的：痣样基底细胞癌综合征是一种常染色体显性遗传疾病，以多发性基底细胞癌、颌骨囊肿、掌/跖窝、脊柱和肋骨异常以及大脑镰钙化为特征。目前的诊断标准是次优时，适用于儿科人群，因为最常见的症状往往不会开始出现，直到十几岁years.Methods：我们研究了30名儿童/青少年的次要和主要的临床特征，并与75名成年人从26个家庭痣样基底细胞癌syndrome.Results：百分之五十的儿童/青少年和82%的成年人至少有一个基底细胞癌。颌骨囊肿发生在60%的儿童/青少年和81%的成人中。掌窝/跖窝是所有年龄段受影响个体中最常见的特征。在50%的受影响儿童/青少年和8%的未受影响儿童/青少年中观察到大头畸形。在受影响的儿童/青少年中观察到额骨隆起、间距过宽、Sprengel畸形、胸畸形和唇腭裂，但在其未受影响的兄弟姐妹中未观察到。镰状钙化，最常见的放射学特征，存在于37%的个人20 years.Conclusion：我们报告痣样基底细胞癌综合征的临床和放射学表现在儿童/青少年，其中许多人缺乏主要功能，如基底细胞癌，颌骨囊肿，镰状钙化。掌/跖窝，颅面特征和放射学表现的评价允许早期诊断和最佳监测。遗传医学2013：15（1）：79-83
Purpose: Nevoid basal cell carcinoma syndrome is an autosomal dominant disorder characterized by multiple basal cell carcinomas, jaw cysts, palmar/plantar pits, spine and rib anomalies, and falx cerebri calcification. Current diagnostic criteria are suboptimal when applied to pediatric populations, as most common symptoms often do not begin to appear until teenage years.Methods: We studied minor and major clinical features in 30 children/teenagers and compared the findings with 75 adults from 26 families with nevoid basal cell carcinoma syndrome.Results: Fifty percent of children/teenagers and 82% of adults had at least one basal cell carcinoma. Jaw cysts occurred in 60% of children/teenagers and 81% of adults. Palmar/plantar pits were the most frequent feature seen in affected individuals at all ages. Macrocephaly was seen in 50% of affected and 8% of unaffected children/teenagers. Frontal bossing, hypertelorism, Sprengel deformity, pectus deformity, and cleft lip/palate were seen among affected children/teenagers but not among their unaffected siblings. Falx calcification, the most frequent radiological feature, was present in 37% of individuals 20 years.Conclusion: We report clinical and radiological manifestations of nevoid basal cell carcinoma syndrome in children/teenagers, many of whom lacked major features such as basal cell carcinomas, jaw cysts, and falx calcification. Evaluations for palmar/plantar pits, craniofacial features, and radiological manifestations permit early diagnosis and optimum surveillance. Genet Med 2013:15(1):79-83