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Cutaneous Manifestations of Mucopolysaccharidoses
Author(s) -
Tran Mimi C.,
Lam Joseph M.
Publication year - 2016
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12971
Subject(s) - medicine , mucopolysaccharidosis , lysosomal storage disorders , hunter syndrome , disease , mucopolysaccharidosis i , enzyme replacement therapy , dermatology , lysosomal storage disease , pathology
Mucopolysaccharidoses ( MPS s) are a group of inherited lysosomal storage disorders characterized by deficiencies in specific enzymes involved in the catabolism of glycosaminoglycans ( GAG s). These deficiencies cause excessive metabolites to accumulate in multiple organs. There are eight different MPS disorders, contributing to the wide variation in clinical presentation. Depending on the severity and subtype of the disease, some children live normal life spans, while others have a more grim prognosis. Children with MPS can present with neurologic, behavioral, skeletal, cardiovascular, gastrointestinal, or respiratory abnormalities. Cutaneous manifestations are mostly nonspecific and can include coarse facial features, thickened skin, and excessive hair growth. More specific skin findings include ivory‐colored “pebbly” papules found in Hunter syndrome and extensive dermal melanocytosis found in Hurler and Hunter syndromes. Early diagnosis of MPS disorders is extremely important to minimize the progression of the disease and for early initiation of appropriate treatment.