Deselin

Deselin is a rare genetic disorder characterized by abnormal collagen production and aggregation. This leads to the accumulation of collagen in various organs and tissues, resulting in skin, muscle, and joint problems.

Symptoms of deselin often appear in childhood or adolescence, and may include joint pain and swelling, skin thickening, and limited mobility. In severe cases, individuals with deselin may experience degenerative joint disease, myopathy, and in rare instances, respiratory and cardiac complications.

The exact cause of deselin is not fully understood, but it is believed to result from mutations in the genes encoding for the α1 (I) chain of type I collagen. This mutation disrupts the normal process of collagen fibrillogenesis, leading to the formation of abnormal collagen fibers.

Clinical diagnosis of deselin can be challenging, but it typically involves a combination of medical history, physical examination, and results from various laboratory tests, including skin biopsy, urinalysis, and blood studies.

Treatment for deselin focuses on managing symptoms and preventing further damage to joints and muscles. This may include physical therapy, occupation therapy, medications to reduce inflammation and pain, and in severe cases, surgical intervention.

Research into deselin is ongoing, and advances in our understanding of this disorder have improved diagnosis and treatment options. A team of researchers has identified potential gene therapy approaches that offer hope for future treatment and, potentially, a cure for deselin sufferers.

Case reports of deselin are few in number, due in part to its rarity.