Dermatological Characteristics in a Cohort of Patients with Mucopolysaccharidosis from Southwestern Colombia

Abstract Background: Mucopolysaccharidoses (MPS) are rare lysosomal storage disorders characterized by glycosaminoglycan accumulation and multisystem involvement, including underreported dermatological features. Objective: To describe the dermatological characteristics of a cohort of patients with mucopolysaccharidosis from southwestern Colombia. Methods: We conducted a prospective cross-sectional study of 16 patients with a clinical, enzymatic, and/or molecular diagnosis of MPS, evaluated in Cali, Colombia (January-June 2024). Sociodemographic variables were collected, and cutaneous manifestations were categorized as facial, body, adnexal, or other. Results: The median age was 14.5 years (IQR 10-29); MPS IV-A was the most frequent subtype (n=11). Dermatologically, all patients presented with a flat nasal bridge, broad nose, and brachyonychia. Hypertrichophrydia, telangiectasias, and dermal melanocytosis were frequently observed in MPS IV-A. Conclusions: This cohort confirms consistent dermatological markers in MPS, particularly coarse facial features and universal brachyonychia, which may represent an underrecognized phenotypic sign. Early dermatologic evaluation can contribute to clinical suspicion and multidisciplinary management in vulnerable populations.