Details: Category: Region 9; Published: 30 April 2022

Have you ever met someone who suffers from Stoneman Syndrome? Fibrodysplasia ossificans progressiva (FOP), often known as stone man syndrome, is an extremely rare genetic disorder characterized by ectopic ossification of the skeletal and connective tissues resulting in the gradual union of the axial and appendicular skeleton. This happens when muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossification) which will result in an extra-skeletal or heterotopic bone that restricts mobility. This process usually begins in early childhood. It starts from the neck extending to the shoulders and progresses down the body and into the limbs.

The ACVR1 gene can be found in a variety of tissues throughout the body, including skeletal muscle and cartilage. It aids in the regulation of bone and muscle growth and development including the progressive replacement of cartilage by bone (ossification) that happens during normal skeletal maturation from birth to early adulthood. According to research, mutations in the ACVR1 gene have been linked to fibrodysplasia ossificans progressive. Mutations in these genes affect the processes that regulate the activation of the receptor. This receptor activation induces bone and cartilage overgrowth leading to the signs and symptoms of Stone man syndrome.

As the joints become damaged by extra-skeletal bone growth, there is a gradual loss of motion. The inability to completely expand the mouth will make it difficult for the person to talk and eat. People with this illness may become malnourished as a result of their eating issues over time. They may experience breathing problems as a result of excess bone growth around the rib cage which limits lung expansion. A shortened great toe with a deformed distal first metatarsal and a missing or aberrant first phalanx and/or interphalangeal joint is the most prevalent skeletal deformity linked with FOP.

When FOP is suspected, biopsies should be avoided since they can result in fast bone growth in the regions where the tissue was removed. Intramuscular injections must be avoided and injections of local anesthetics and jaw stretching should be avoided also during dental therapy. Furthermore, individuals should avoid any events that may result in blunt trauma, such as falls because it can often result in aberrant bone formations. Although there are no known effective therapies for FOP, clinical trials are now undertaken. The identification of the FOP gene and the mutation that causes FOP has prompted further study into possible treatments for the disease.

- PNFP Rowence F. Zorilla, RND

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