PDF(Pubmed)
Abstract：
Tuberous sclerosis (TSC) is a rare autosomal dominant disorder that can affect multiple organ systems, including the brain, heart, lungs, and skin. Cutaneous manifestations are common, including ungual fibromas, however, these may be mistaken for other pathologies. Here, we present the case of a 14-year-old with TSC complaining of traumatic left little finger pain. Radiographic evaluation revealed cortical scalloping of the nailbed, concerning for a non-displaced fracture. Given the history of TSC, however, this defect may have also represented a periungual fibroma. The patient subsequently underwent conservative management and an eight-month radiographic follow-up showed no osseous remodeling, supporting the diagnosis of periungual fibroma. It is imperative for clinicians to understand the cutaneous manifestations of TSC to aid in proper diagnosis and avoidance of unnecessary treatment. In this case, interval follow-up confirmed the diagnosis and excluded fracture.
摘要：
结节性硬化症（TSC）是一种罕见的常染色体显性疾病，可影响多器官系统，包括大脑,心,肺,和皮肤。皮肤表现很常见，包括指甲纤维瘤,然而,这些可能被误认为是其他病症。这里,我们介绍了一个14岁的TSC患者，抱怨创伤性左小指疼痛。影像学评估显示钉床皮质扇贝，关于非移位骨折。鉴于TSC的历史，然而,这种缺陷也可能代表了甲周纤维瘤。患者随后接受了保守治疗，八个月的影像学随访显示没有骨重塑，支持甲周纤维瘤的诊断。临床医生必须了解TSC的皮肤表现，以帮助正确诊断并避免不必要的治疗。在这种情况下,间隔随访证实诊断并排除骨折。
