Multiple Skeletal Deformities in a Middle-Aged Man

Area of Science:

• Endocrinology
• Genetics
• Orthopedics

Background:

• Multiple hereditary exostoses (MHE) is a rare genetic disorder.
• It is characterized by the development of multiple osteochondromas, which are benign bone tumors.
• MHE can lead to significant complications affecting quality of life.

Observation:

• A 54-year-old male patient presented with limited range of motion in his left foot.
• Physical examination revealed hallux valgus deformity, compromised joint function, and painless bony prominences.
• Skeletal survey confirmed findings consistent with MHE.

Findings:

• The patient's presentation, including foot deformities and family history of skeletal abnormalities, suggested a hereditary condition.
• Skeletal survey results were diagnostic for multiple hereditary exostoses.
• The case highlights the orthopedic manifestations of MHE.

Implications:

• Early diagnosis and long-term follow-up are essential for managing MHE.
• Regular clinical and radiological examinations are necessary to prevent and treat complications.
• Understanding the genetic basis and clinical spectrum of MHE is crucial for patient care.