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

ABSTRACT

Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder characterized by the development of multiple osteochondromas adjacent to the growth plates. Although skeletal deformities and palpable masses are common findings, chronic pain may represent an early and underappreciated diagnostic clue, particularly in pediatric patients. The first patient, an 11‐year‐old boy without a known family history, presented with persistent right foot and knee pain, initially misdiagnosed as a heel spur. Subsequent radiographic evaluation revealed multiple osteochondromas involving the forearms, fingers of the right hand, distal femurs, and bilateral tibias and fibulas. He currently receives symptomatic treatment with analgesics. The second patient, an 8‐year‐old boy, reported chronic lower limb pain since the age of three and had palpable periarticular masses near the joints of the costal grid, fingers, shoulders, forearms, and lower limbs since birth. His mother exhibited similar skeletal abnormalities and short stature. Radiographs confirmed widespread osteochondromas affecting the hands, upper limbs, distal femurs, proximal tibias, fibulas, and pelvis. He remains on daily analgesic therapy without prior surgical intervention. Chronic musculoskeletal pain in children, particularly when persistent or associated with palpable masses or family history, should raise suspicion for HME. Early recognition through careful physical examination and appropriate imaging facilitates timely diagnosis, longitudinal surveillance, and prevention of complications.