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Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign

Mucopolysaccharidosis type-II (MPS-II) is an X-linked lysosomal storage disorder. Here, we report an 8-year-old boy with pebbling sign in the scapular region, coarse facies, claw hand, diastolic murmur, and hepatomegaly. With decreased iduronate-2-sulfatase activity and hemizygous mutation in the ID...

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Main Authors: Ayşe Hitay İnan (Author), Berna Şeker Yılmaz (Author), Fatma Derya Bulut (Author), Sebile Kılavuz (Author), Deniz Kor (Author), Mehmet Karakaş (Author), Halise Neslihan Önenli Mungan (Author)
Format: Book
Published: Galenos Yayinevi, 2021-06-01T00:00:00Z.
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Summary:Mucopolysaccharidosis type-II (MPS-II) is an X-linked lysosomal storage disorder. Here, we report an 8-year-old boy with pebbling sign in the scapular region, coarse facies, claw hand, diastolic murmur, and hepatomegaly. With decreased iduronate-2-sulfatase activity and hemizygous mutation in the IDS gene, the diagnosis was MPS-II. Pebbling sign is a rare but pathognomonic sign of MPS-II.
Item Description:2587-2478
2587-2478
10.4274/jpr.galenos.2020.82621

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