Vietnamese Girl Diagnosed with Ultra-Rare 'Stone Man Syndrome' After Gene Test

Doctors in Ho Chi Minh City have diagnosed a 12-year-old girl with Fibrodysplasia Ossificans Progressiva (FOP), a rare genetic disorder affecting approximately one in 500,000 people. The diagnosis came after nearly two years of treatment and planning for surgery.

The case presented a diagnostic challenge because the patient did not exhibit the characteristic malformation of the big toe, a hallmark present in over 90% of FOP cases. She had been experiencing progressive joint stiffness, initially in her left hip after a minor fall, which later spread to her spine, neck, and shoulders, severely limiting her daily activities.

Initially, doctors considered surgery to address the hip stiffness. However, further clinical, imaging, and genetic data suggested this intervention might worsen the condition. Gene sequencing revealed a mutation in the ACVR1 gene, confirming the FOP diagnosis. Consequently, the planned surgery was canceled.

Treatment now focuses on managing flare-ups with corticosteroids or non-steroidal anti-inflammatory drugs and monitoring for potential hearing loss. FOP has no complete cure, and management centers on early detection, controlling symptoms, maintaining mobility, and avoiding triggers that accelerate bone formation. Doctors emphasize the need to consider FOP even in the absence of typical signs.