Mucopolysaccharidoses (MPS) are rare hereditary metabolic disorders characterized by the abnormal accumulation of glycosaminoglycans (GAG) due to deficiencies in specific enzymes, resulting in multisystem involvement. Additionally, the skin and its appendages may be affected, providing relevant information for the diagnosis, management, and prognosis of the disease. The objective of the study is to analyze the scientific literature on cutaneous manifestations in patients with MPS, highlighting their importance for early diagnosis and comprehensive management. A systematic search was conducted in the PubMed/Medline, ScienceDirect, and SciELO databases covering the period from January 2015 to October 1, 2024. After applying inclusion and exclusion criteria, 10 articles that provided relevant information on the dermatological manifestations of MPS were thoroughly analyzed. The initial search identified 94 references; subsequently, 10 articles were selected. Common findings include coarse facial features, thickened skin, hypertrichosis, and ivory-colored papules, especially in the upper regions of the back and arms. Additionally, the presence of dermal melanocytosis in Hurler and Hunter syndromes (MPS I and II) was highlighted, which could be related to a higher accumulation of GAG in the dermis, demonstrating variations according to the subtype. Although nonspecific, the dermatological manifestations in MPS offer valuable clues for early detection. Further studies in this area are necessary to optimize diagnostic precision and comprehensive therapeutic management.
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