Clinical Finding and Management of 12 Orofacial Clefts Cases with Nevoid Basal Cell Carcinoma Syndrome
Clinical Finding and Management of 12 Orofacial Clefts Cases with Nevoid Basal Cell Carcinoma Syndrome
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口颌面裂痣样基底细胞癌综合征12例临床观察与治疗
DOI：
10.1597/14-323
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发表时间：
2017
期刊：
影响因子：
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通讯作者：
Tie‐Jun Li
中科院分区：
文献类型：
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作者：
Lee Mui Lee;Lian Ma;Tie‐Jun Li
目的探讨唇腭裂（CL/P）伴痣样基底细胞癌综合征（NBCCS）患者的临床表现及治疗方法。设计案例系列研究。主要观察指标描述12例符合诊断标准的CL/P伴NBCCS患者的临床表型，并探讨其临床处理方法。结果12例中7例（58.33%）为双侧完全性唇腭裂（BCCLP）。单侧完全性唇腭裂（UCCLP）2例（2/12，16.67%）。单侧完全性唇裂（UCCL）、悬雍垂粘膜下裂（SCU）、双悬雍垂（BU）各1例（8.33%）。男女比例为9/3。12例均为角化囊性牙源性肿瘤。最常见的部位是下颌骨（12/12，100%），其次是上颌骨（7/12，58.33%）。12例NBCCS伴CL/P的诊断年龄为11 ~ 42岁（通常推迟到KCOT发生时）。NBCCS的临床表现复杂，延误诊断。在某些情况下，去除KCOTs的手术治疗和牙槽骨移植的相互作用使CL/P的团队方法（TA）更加复杂。结论CL/P可能成为NBCCS的重要临床表型。唇腭裂类型多样，双侧唇腭裂占50%以上。需要更大的样本量来研究和确认这一结果。KCOTs是NBCCS最常见的临床特征之一，由于其发生的时间和部位，使诊断延迟，TA困难。这促使我们提高CL/P的诊断标准，以便早期诊断和探索更好的治疗方案。
Objective To study the phenotype and overview the clinical management on Cleft Lip and/or Palate (CL/P) with Nevoid Basal Cell Carcinoma Syndrome (NBCCS) patients in Peking University School and Hospital of Stomatology. Design Case series study. Main Outcome Measures To describe the clinical phenotype of 12 CL/P with NBCCS patients who fulfilled the diagnostic criteria as well as to explore clinical management. Results Seven cases (7/12, 58.33%) were classified as bilateral complete cleft lip and palate (BCCLP). Two cases (2/12, 16.67%) were classified as unilateral complete cleft lip and palate (UCCLP). Three cases (1/12, 8.33%) were classified as unilateral complete cleft lip (UCCL), submucosa cleft uvula (SCU), and bifid uvula (BU), respectively. The ratio of male/female was 9/3. Keratocystic odontogenic tumors (KCOTs) were presented in all 12 cases. The most common site was the mandible region (12/12, 100%) followed by the maxilla region (7/12, 58.33%). The diagnostic age of 12 NBCCS with CL/P ranged from 11 to 42 years old (usually postponed to the occurring of KCOTs). The delayed diagnosis of NBCCS can be attributed to its complicated clinical manifestations. In some cases, the mutual effect between the surgical therapy of removing KCOTs and alveolar bone grafting made the team approach (TA) of CL/P more complicated. Conclusion CL/P may become important clinical phenotype in NBCCS. The type of cleft varied, with bilateral cleft lip and palate comprising above 50%. Larger sample sizes are needed to study and confirm this result. KCOTs, as one of the most common clinical feature of NBCCS, make the diagnosis delayed and the TA more difficult because of the occurring time and site. This compels us to improve the diagnostic criteria to make an early diagnosis and explore a better therapeutic protocol for CL/P.