Fracture or Not: An Easily Mistaken Benign Finding in a Tuberous Sclerosis Patient

TL;DR

A 14-year-old with tuberous sclerosis had finger pain, but imaging showed a benign skin growth mistaken for a fracture.

Contribution

This case highlights the importance of recognizing TSC-related skin findings to avoid misdiagnosis and unnecessary treatment.

Findings

Radiographic follow-up confirmed no fracture, supporting a periungual fibroma diagnosis.

Conservative management was appropriate due to the benign nature of the lesion.

Understanding TSC skin manifestations is crucial for accurate diagnosis.

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.

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