Mucopolysaccharidosis with skin involvement

Mucopolysaccharidosis with skin involvement (Orphanet code 79388) is a grouping term used in Orphanet to classify a subset of mucopolysaccharidoses (MPS) that prominently feature dermatological manifestations. The mucopolysaccharidoses are a family of lysosomal storage disorders caused by deficiencies in enzymes required for the degradation of glycosaminoglycans (GAGs, formerly called mucopolysaccharides). When these complex sugar molecules accumulate in tissues, they can affect multiple organ systems including the skin, skeleton, heart, liver, spleen, eyes, and central nervous system. Skin-related features in MPS disorders may include thickened skin, reduced elasticity, pebbly or peau d'orange texture, excessive body hair (hypertrichosis), and distinctive facial coarsening. Specific MPS subtypes known for prominent skin involvement include MPS II (Hunter syndrome), MPS I (Hurler/Scheie syndrome), and others where dermal GAG deposition is clinically significant. The clinical presentation varies depending on the specific MPS subtype but commonly includes progressive coarsening of facial features, joint stiffness, skeletal dysplasia (dysostosis multiplex), hepatosplenomegaly, and cardiopulmonary complications alongside the characteristic skin changes. Skin findings such as ivory-white papular lesions (particularly seen in Hunter syndrome), thickened dermis, and Mongolian spots may be among the earliest recognizable signs. Treatment options depend on the specific underlying MPS type and may include enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), and supportive symptomatic management. Gene therapy approaches are under active investigation for several MPS subtypes. Early diagnosis and intervention are important for optimizing outcomes.

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