Rare connective tissue and musculoskeletaldiseases encompass a broad spectrum of disorders primarily affecting the body'sconnective tissues, such as skin, bones, joints, and blood vessels. SwissRITAfocuses on the inflammatory conditions within this group, including systemicsclerosis, dermatomyositis, and mixed connective tissue disease. Theseconditions can lead to significant morbidity due to inflammation and immunesystem involvement. Diagnosis typically involves clinical evaluation ofphysical features, imaging studies, and genetic testing. Management ismultidisciplinary, emphasizing symptom relief, physical rehabilitation, and,when necessary, immunosuppressive therapies.
on-inflammatory conditions, such as Marfansyndrome, Ehlers-Danlos syndrome, and osteogenesis imperfecta, are managed byour colleagues at ERN BOND, in close collaboration with us if needed. Earlydiagnosis and comprehensive care are crucial to managing symptoms and enhancingthe quality of life for individuals affected by these rare diseases. Giventheir complexity and rarity, both inflammatory and non-inflammatory diseasesoften require specialized and ongoing monitoring.
