Cutaneous Manifestations of Mucopolysaccharidoses
September 2016
in “
Pediatric dermatology
”
Studysummary This review discusses the diverse clinical manifestations of mucopolysaccharidoses in children and emphasizes the importance of early diagnosis and treatment initiation, but it reports no new clinical findings.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
The document from 2016 reviews the skin-related and systemic symptoms of Mucopolysaccharidoses (MPS), a group of inherited metabolic disorders caused by enzyme deficiencies that lead to the buildup of glycosaminoglycans in tissues. It details the cutaneous manifestations, which are often nonspecific but can include coarse facial features, thickened skin, and excessive hair growth, and notes specific skin findings that vary by MPS type, such as pebbly papules in Hunter syndrome and extensive dermal melanocytosis in Hurler and Hunter syndromes. The review underscores the importance of recognizing these dermatological signs for early diagnosis and treatment, which is essential for managing the disease. It also mentions the benefits of enzyme replacement therapy and the need for genetic counseling to inform about reproductive risks.
