Chronic Pain as an Early Diagnostic Clue in Hereditary Multiple Exostoses: Two Pediatric Cases Highlighting...

Area of Science:

• Pediatric Orthopedics
• Medical Genetics
• Skeletal Dysplasias

Background:

• Hereditary multiple exostoses (HME) is a genetic disorder characterized by the development of multiple bony outgrowths (exostoses).
• Musculoskeletal pain is a common but often overlooked symptom in children with HME.
• Delayed diagnosis of HME can lead to suboptimal management and complications.

Purpose of the Study:

• To highlight the significance of persistent musculoskeletal pain as an early indicator of HME in children.
• To emphasize the importance of recognizing pain as a diagnostic clue for HME.
• To advocate for timely diagnostic workup and structured surveillance in suspected HME cases.

Main Methods:

• Retrospective review of pediatric cases with suspected HME.
• Analysis of clinical presentation, focusing on musculoskeletal pain, palpable masses, and family history.
• Correlation of symptoms with diagnostic imaging and genetic confirmation.

Main Results:

• Persistent musculoskeletal pain, especially when accompanied by palpable masses or a positive family history, is a strong predictor of HME.
• Delayed diagnosis was associated with a lack of recognition of pain as a primary symptom.
• Timely diagnosis facilitated appropriate imaging and the initiation of structured surveillance protocols.

Conclusions:

• Musculoskeletal pain in children warrants a high index of suspicion for HME, particularly with associated risk factors.
• Early identification of HME through pain recognition can significantly improve patient outcomes.
• Structured surveillance and long-term management are crucial for children diagnosed with HME.