Vietnam doctors diagnose country’s 1st confirmed case of rare ‘stone man syndrome’

The hospital said the case was the first officially diagnosed FOP patient reported in Vietnam and was subsequently published in an international medical journal following more than six months of peer review.

FOP is an extremely rare disorder affecting about one in two million people worldwide.

The disease causes soft tissues such as muscles, tendons, and ligaments to gradually turn into bone, restricting movement and leading to severe disability.

According to the medical team, the girl’s symptoms first appeared at age nine after a minor bicycle accident.

Swelling, inflammation, and stiffness developed at the injury site before progressively spreading from the hip region to the shoulders, making walking and daily activities increasingly difficult.

Over the next two years, the family sought treatment at several major hospitals in Ho Chi Minh City.

While doctors treated symptoms, the underlying cause remained unidentified, and surgery to improve joint mobility was considered but not performed.

The breakthrough came after specialists at CCH reviewed the case.

Imaging scans showed extensive calcification in soft tissues surrounding the joints, while the bones themselves appeared largely normal.

Doctors said the unusual pattern suggested a possible genetic disorder.

They subsequently conducted targeted gene sequencing, which confirmed a mutation associated with FOP.

The patient belongs to a small subgroup representing about five percent of FOP cases that do not present with congenital malformations of the big toes, a hallmark feature commonly used to identify the disease.

Doctors said accurate diagnosis was critical because trauma, surgery, intramuscular injections, and other invasive procedures can trigger new bone formation and accelerate disease progression.

“There is currently no curative treatment for FOP,” said Dr. Le Thanh Binh, deputy head of the hospital’s nephrology and endocrinology department.

He said Palovarotene, a drug used in some developed countries including the United States, Canada, and Australia to reduce new bone formation, remains costly and does not reverse existing bone growth.

Other therapies are still under clinical investigation.

Dr. Nguyen Duong Phi, deputy head of the hospital’s orthopedic, burn, and plastic surgery department, said the most important principle in managing FOP patients is avoiding injuries and unnecessary medical interventions.

The girl is currently receiving outpatient treatment.

Doctors are using short courses of high-dose corticosteroids during acute flare-ups and nonsteroidal anti-inflammatory drugs to control inflammation and help maintain quality of life.

The hospital said publication of the case could help raise awareness of the disorder among physicians and improve early diagnosis, reducing the risk of inappropriate treatments that may worsen the condition.