Fahmy Mina D, Gupta Anish, Padilla Ricardo J, Segura Annette, Brookes Carolyn Dicus
Resident, Department of Oral and Maxillofacial Surgery, University of Tennessee Medical Center, Knoxville, Tennessee, USA.
Former resident, Division of Oral and Maxillofacial Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin, USA; Michigan Center for Oral Surgery, Southgate, Michigan, USA.
Oral Surg Oral Med Oral Pathol Oral Radiol. 2019 Aug;128(2):e92-e99. doi: 10.1016/j.oooo.2019.03.008. Epub 2019 Mar 16.
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder that affects the skin, brain, kidneys, and other organ systems. It may exhibit a wide spectrum of clinical manifestations. Desmoplastic fibroma (DF) of the jaw is a rare benign myofibroblastic neoplasm. Less than 10 cases of DF associated with TSC have been published previously. We report a new case of a maxillary DF in a 12-year-old girl with TSC. The presentation, diagnostic process, and management of this case are discussed, and the literature is reviewed for the additional cases of DF associated with TSC; 7 previously reported cases are summarized. Small sample size limits conclusions, but there may be differences in the presentations of DF of the jaws in patients with TSC vs those in the general population. DF of the jaws may be a manifestation of TSC, and the authors propose surveillance panoramic radiographs every 2 to 3 years in patients with TSC.
结节性硬化症（TSC）是一种常染色体显性遗传病，会影响皮肤、大脑、肾脏和其他器官系统。它可能表现出广泛的临床表现。颌骨促结缔组织增生性纤维瘤（DF）是一种罕见的良性肌成纤维细胞肿瘤。此前发表的与TSC相关的DF病例不到10例。我们报告了1例12岁患有TSC的女孩发生上颌骨DF的新病例。讨论了该病例的临床表现、诊断过程和治疗方法，并回顾了相关文献中其他与TSC相关的DF病例；总结了7例先前报道的病例。样本量小限制了结论，但TSC患者颌骨DF的表现可能与普通人群有所不同。颌骨DF可能是TSC的一种表现，作者建议对TSC患者每2至3年进行一次全景X线片监测。
