Severe calcinosis universalis secondary to juvenile dermatomyositis

Case Diagnosis: 7-year-old female with juvenile dermatomyositis (JDM) complicated by severe calcinosis universalis.

Case Description or Program Description: A previously ambulatory 7-year-old female from Egypt with NXP2+ JDM complicated by severe calcinosis universalis presented to clinic. She was initially diagnosed with JDM at 2.5 years old and treated with improvement and subsequent discontinuation of all medications. She then had rapid widespread calcinosis with contractures and mobility loss. Treatment re-initiation was unsuccessful, so she sought care in New York. On presentation, she had significant pain from extensive, palpable calcifications in her soft tissues and muscles, multiple joint contractures, and generalized osteopenia. She was chair-dependent and unable to sit independently. Her primary goal was to walk again.

Setting: Academic children’s hospital.

Assessment/Results: Her functional decline stemmed from extensive calcinosis with resultant contractures. She started therapy for iliopsoas stretching and was prescribed bracing for contractures, adaptive equipment for improved mobility, and sacral cushioning for improved sitting tolerance. Rheumatology-led JDM treatment improved disease burden, softening calcifications and increasing extrusion. With multidisciplinary treatment and rehabilitation care, she had decreased pain, increased strength, could crawl and independently transfer again, and had improved elbow contractures by propelling her new manual wheelchair. She also received a power chair for independent community mobility. At 1-year follow-up, she continues to make functional gains, and is considering surgical release to aid in standing and ambulation.

Discussion (relevance): Calcinosis universalis is a rare and often treatment-refractory complication of JDM, leading to increased morbidity and mortality due to severe pain and functional impairments as seen in our patient. While there are no current standard treatment recommendations, this case supports the active involvement of physiatrists to initiate goal-directed therapy, bracing, and adaptive equipment to restore function in these patients.

Conclusions: Physiatrists play an integral role in managing JDM with severe calcinosis, helping children regain mobility and independence in the face of a complex, debilitating disease.