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Cutaneous Manifestations of Mucopolysaccharidoses
被引:9
作者:
Tran, Mimi C.
[1
]
Lam, Joseph M.
[1
,2
]
机构:
[1] Univ British Columbia, Dept Dermatol & Skin Sci, Vancouver, BC, Canada
[2] Univ British Columbia, Dept Paediat, 1803-805 West Broadway, Vancouver, BC V5Z 1K1, Canada
关键词:
STURGE-WEBER-SYNDROME;
MARMORATA TELANGIECTATICA CONGENITA;
PORT-WINE STAIN;
KLIPPEL-TRENAUNAY-SYNDROME;
MALFORMATION-ARTERIOVENOUS MALFORMATION;
MACROCEPHALY-CAPILLARY MALFORMATION;
NEVUS-FLAMMEUS SIMPLEX;
PROTEUS-SYNDROME;
VASCULAR ANOMALIES;
LYMPHATIC MALFORMATION;
D O I:
10.1111/pde.12971
中图分类号:
R75 [皮肤病学与性病学];
学科分类号:
100206 ;
摘要:
Mucopolysaccharidoses (MPSs) are a group of inherited lysosomal storage disorders characterized by deficiencies in specific enzymes involved in the catabolism of glycosaminoglycans (GAGs). 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.
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页码:594 / 601
页数:8
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