904 - Stiff Skin Syndrome: Management from a PM&R perspective

We present a case of a 32-year-old female patient who was diagnosed with Stiff Skin Syndrome, a very rare genetic condition that affects skin elasticity, causing thickened and immobile skin. Her initial symptoms started during childhood, which included short stature and then the development of contractures and joint stiffness - particularly in her elbows - prompting many physician visits before eventually being diagnosed via genetic testing. She began following with a physiatrist for elbow and ankle contractures and was referred to physical therapy with a focus on active release techniques (ART). Following repeated sessions with ART, she noticed great improvements in range of motion (ROM) and pain.

Discussions: Stiff skin syndrome is caused by a mutation in FNB1, a gene encoding for a protein crucial for skin elasticity. It commonly affects pelvic and shoulder girdle ROM and mobility due to the stiffening of skin around these larger joints. The limited joint mobility can then lead to contractures. Early intervention with physical therapy is critical in preserving ROM in these larger joints. ART is a type of therapy done by physical therapists involving active ROM exercises with palpation over the restricted tissues to restore tissue mobility. It becomes key to explore more conservative treatment options such as physical therapy, before trying more invasive procedures like surgical release, especially in patients who might have more difficulty with skin healing.

Conclusions: The role of physiatrists in stiff skin syndrome management is to provide routine referral for ART with physical therapists who work one-on-one with the patient to ensure preservation of mobility and pain reduction. Given the rarity of Stiff Skin Syndrome, more research is needed to evaluate outcomes on pain and ROM after receiving ART.