collagenosis

Collagenosis refers to a group of diseases characterized by abnormalities in collagen, a major structural protein in the body. Collagen provides support and structure to connective tissues, including skin, bones, tendons, and cartilage. In collagenosis, the production, structure, or degradation of collagen is disrupted, leading to a range of symptoms and conditions.

These disorders can be broadly classified into inherited and acquired types. Inherited collagenopathies, such as Ehlers-Danlos syndrome and osteogenesis imperfecta, result from genetic mutations affecting collagen synthesis or processing. Acquired collagenoses, often referred to as autoimmune connective tissue diseases, involve the immune system mistakenly attacking the body's own collagen. Examples include lupus erythematosus, rheumatoid arthritis, scleroderma, and polymyositis.

Symptoms of collagenosis vary widely depending on the specific condition and the tissues affected. They can include joint pain and stiffness, skin changes (such as thickening, fragility, or rashes), muscle weakness, fatigue, and organ involvement. Diagnosis typically involves a combination of clinical evaluation, laboratory tests (including autoantibody detection), and sometimes imaging studies or tissue biopsies. Treatment aims to manage symptoms, reduce inflammation, and prevent disease progression, often involving medications like anti-inflammatory drugs, immunosuppressants, and physical therapy.