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The Journal of Pediatric Research
| . 2021; 8(2): 0-0 | |||
Mucopolysaccharidosis Type II with The Pathognomonic Skin Appearance: A Case with Pebbling SignAyşe Hitay Inan1, Berna Seker Yilmaz2, Fatma Derya Bulut3, Sebile Kılavuz4, Deniz Kor1, mehmet karakaş5, Halise Neslihan Önenli Mungan11Department of Pediatric Metabolism and Nutrition, Çukurova University, Adana, Turkey2Department of Pediatric Metabolism and Nutrition, Mersin University, Mersin, Turkey 3Adana City Research and Training Hospital, Pediatric Metabolism and Nutrition Unit, Adana, Turkey 4Van Research and Training Hospital, Pediatric Metabolism and Nutrition Unit, Van, Turkey 5Department of Dermatology, Çukurova University, Adana, Turkey Mucopolysaccharidosis type-II(MPS-II) is an X-linked lysosomal storage disorder. Here, we report an 8-year-old boy with pebbling sign in scapular region, coarse facies, claw hand, diastolic murmur, and hepatomegaly. With decreased iduronate-2-sulfatase activity and hemizygous mutation in IDS gene, diagnosis was MPS-II. Pebbling sign is a rare but pathognomonic sign of MPS-II. Keywords: Mucopolysaccharidosis, Hunter disease, Pebbling signAyşe Hitay Inan, Berna Seker Yilmaz, Fatma Derya Bulut, Sebile Kılavuz, Deniz Kor, mehmet karakaş, Halise Neslihan Önenli Mungan. Mucopolysaccharidosis Type II with The Pathognomonic Skin Appearance: A Case with Pebbling Sign. . 2021; 8(2): 0-0 Corresponding Author: Fatma Derya Bulut, Türkiye |
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