Dermato-cardio-skeletal syndrome, Borrone type

Dermato-cardio-skeletal syndrome, Borrone type (also known as Borrone dermato-cardio-skeletal syndrome) is an extremely rare genetic disorder first described by Borrone and colleagues, characterized by a combination of skin, cardiac, and skeletal abnormalities. The condition affects multiple body systems, with key features including thick, coarse skin with reduced elasticity, hypertrophic cardiomyopathy or other cardiac anomalies, and skeletal dysplasia with joint contractures and short stature. Additional clinical features may include coarse facial features, gingival hypertrophy, and corneal opacities. The skeletal manifestations can include dysostosis multiplex-like changes, generalized osteoporosis, and abnormalities of the vertebrae and long bones. The syndrome presents from early life, typically recognized in infancy or childhood due to the progressive nature of the skin changes and skeletal findings. Cardiac involvement, particularly hypertrophic cardiomyopathy, can be a significant source of morbidity. The condition shares some clinical overlap with other storage disorders and connective tissue diseases, which can make diagnosis challenging. The molecular basis of this syndrome has been linked to mutations in the SH3PXD2B gene, which encodes a protein involved in extracellular matrix remodeling (also known as Frank-ter Haar syndrome in some classifications). There is currently no specific curative treatment for Borrone dermato-cardio-skeletal syndrome. Management is supportive and multidisciplinary, involving cardiology monitoring and treatment of cardiac complications, orthopedic management of skeletal abnormalities, dermatologic care, and ophthalmologic surveillance. Early diagnosis and regular follow-up are important to monitor for progressive cardiac and skeletal complications.

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