Medical School, University of Ioannina, Ioannina, Greece.
Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Mol Biol Rep. 2024 Jan 28;51(1):216. doi: 10.1007/s11033-024-09214-0.
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder typified by various combination of numerous Café-au-lait macules, cutaneous and plexiform neurofibromas, freckling of inguinal or axillary region, optic glioma, Lisch nodules and osseous lesions. Cherubism is a rare genetic syndrome described by progressive swelling of the lower and/or upper jaw due to replacement of bone by fibrous connective tissue. Patients are reported in the literature with NF1 and cherubism-like phenotype due to the NF1 osseous lesions in the jaws. The purpose of this case report is the description of a young male genetically diagnosed with both NF1 and cherubism.
A 9 years and six month old patient with clinical findings of NF1 and cherubism in whom both diseases were genetically confirmed, is presented. The patient was evaluated by a pediatrician, a pediatric endocrinologist, an ophthalmologist, and an oral and maxillofacial surgeon. A laboratory and hormonal screening, a histological examination, a chest X-ray, a magnetic resonance imaging (MRI) of the orbit and a digital panoramic radiography were performed. Genetic testing applying Whole Exome Sequencing was conducted.
A novel and an already reported pathogenic variants were detected in NF1 and SH3BP2 genes, respectively. This is the first described patient with coexistence of NF1 and cherubism. The contribution of Next Generation Sequencing (NGS) in gene variant identification as well as the importance of close collaboration between laboratory scientists and clinicians, is highlighted. Both are essential for optimizing the diagnostic approach of patients with a complex phenotype.
神经纤维瘤病 1 型（NF1）是一种常染色体显性遗传病，其特征是存在各种组合的大量咖啡牛奶斑、皮肤和神经丛神经纤维瘤、腹股沟或腋窝区域的雀斑、视神经胶质瘤、Lisch 结节和骨病变。 cherubism 是一种罕见的遗传综合征，其特征是由于颌骨中的 NF1 骨病变，导致下颌和/或上颌进行性肿胀，由纤维结缔组织替代骨。由于颌骨中的 NF1 骨病变，文献中报道了患有 NF1 和 cherubism 样表型的患者。本病例报告的目的是描述一名年轻男性，经基因诊断患有 NF1 和 cherubism。
介绍了一名 9 岁零 6 个月的患者，其临床表现为 NF1 和 cherubism，两种疾病均经基因证实。该患者由儿科医生、儿科内分泌学家、眼科医生和口腔颌面外科医生进行了评估。进行了实验室和激素筛查、组织学检查、胸部 X 光检查、眼眶磁共振成像（MRI）和数字化全景放射摄影。进行了全外显子组测序的基因检测。
在 NF1 和 SH3BP2 基因中分别检测到了新的和已报道的致病性变异。这是首例同时患有 NF1 和 cherubism 的患者。强调了下一代测序（NGS）在基因变异识别中的作用以及实验室科学家和临床医生之间密切合作的重要性。这两者对于优化具有复杂表型的患者的诊断方法都至关重要。
