Balasundram Sathesh, Kovilpillai Ferdinand Jesudian, Hopper Colin
Eastman Dental Institute, University College London, London, United Kingdom.
J Clin Pediatr Dent. 2010 Fall;35(1):95-100. doi: 10.17796/jcpd.35.1.r7t6t25372830426.
A 10- year-old patient presented with a slow growing jaw swelling. The initial general examination did not reveal any significant findings.
Conservative enucleation of the cyst confirmed it to be an odontogenic keratocyst. The patient remained asymptomatic for the following 2 years and subsequently presented cystic lesions in jaws with displaced teeth. These cysts were enucleated and were confirmed to be odontogenic keratocysts . The patient has been on regular follow up since then and subsequent scans have shown further occurrence of cysts in the jaws with displacement of the third molars.
Clinical examination also revealed macrocephaly, fronto-parietal bossing, pitting on palmar and plantar surfaces, calcification of falx cerebri and splayed ribs, confirming the diagnosis of nevoid basal cell carcinoma syndrome. He also presented with a cafi au lait patch and skin pits on the neck. The family history was negative for features of nevoid basal cell carcinoma syndrome.
Nevoid basal cell carcinoma syndrome is a condition that can cause significant morbidity if not detected early. Over the years this syndrome has presented with many other non specific phenotype presentation, of which the current finding may be one of This calls for meticulous assessment and examination of patients and a standardized protocol in screening and managing these patients that may facilitate a more beneficial outcome for the patient.
一名10岁患者出现颌骨肿胀且生长缓慢。初步全身检查未发现任何显著异常。
对囊肿进行保守性摘除，确诊为牙源性角化囊肿。患者在接下来的2年里无症状，随后颌骨出现囊性病变且牙齿移位。这些囊肿被摘除，确诊为牙源性角化囊肿。此后患者一直定期随访，后续扫描显示颌骨进一步出现囊肿，第三磨牙移位。
临床检查还发现巨头症、额顶部隆起、手掌和足底凹陷、大脑镰钙化以及肋骨增宽，确诊为痣样基底细胞癌综合征。他颈部还出现了一块牛奶咖啡斑和皮肤凹陷。家族史中无痣样基底细胞癌综合征特征。
痣样基底细胞癌综合征若不及早发现可导致严重发病。多年来该综合征出现了许多其他非特异性表型表现，当前发现可能是其中之一。这就要求对患者进行细致评估和检查，并制定标准化的筛查和管理方案，这可能会为患者带来更有益的结果。
