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

IF 0.4 Q4 PEDIATRICS

Journal of Pediatric Research Pub Date : 2021-05-25 DOI:10.4274/JPR.GALENOS.2020.82621

Ayşe Hitay İnan, B. Şeker Yılmaz, F. Bulut, S. Kılavuz, D. Kor, M. Karakaş, Halise Neslihan Önenli Mungan

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Abstract

Ad dress for Cor res pon den ce Fatma Derya Bulut, Adana City Training and Research Hospital, Clinic of Pediatric Metabolism and Nutrition, Adana, Turkey Phone: +90 532 743 27 18 E-mail: deryaozduran@yahoo.com ORCID: orcid.org/0000-0003-0529-2404 Re cei ved: 04.06.2020 Ac cep ted: 03.07.2020 Introduction Mucopolysaccharidosis (MPS) is a group of progressive lysosomal storage disorders caused by mutations of the genes encoding lysosomal enzymes that have a role in the degradation of glycosaminoglycans (GAG). MPS type-II is characterized by dermatan and heparan sulfate storage in all tissues due to iduronate sulfatase (IDS) enzyme deficiency caused by IDS gene mutations (1). It was first described in two brothers by Hunter (2) in 1917. Hunter syndrome (MPS type-II) is an X-linked inherited disease, whereas all the other types of MPS are autosomal recessively inherited. Although it is almost exclusively seen in males, there are a few rare female cases reported. Its incidence is estimated to be between 1:100,000 and 1:170,000 male births (3).

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伴有病理性皮肤外观的II型粘多糖病：一例卵石征

为Cor res pon den ce Fatma Derya Bulut设计的广告连衣裙，阿达纳市培训研究医院，儿科代谢与营养诊所，阿达纳，土耳其电话：+90 532 743 27 18电子邮件：deryaozduran@yahoo.comORCID：ORCID.org/0000-0003-0529-2404回复：2020年6月4日Ac cep ted:2020年7月3日简介粘多糖病（MPS）是一组进行性溶酶体储存障碍，由编码溶酶体酶的基因突变引起，溶酶体酶在糖胺聚糖（GAG）的降解中起作用。MPS II型的特征是，由于IDS基因突变引起的iduronate sulfatase（IDS）酶缺乏，所有组织中都存在皮肤素和硫酸乙酰肝素（1）。1917年，Hunter（2）在《两兄弟》中首次描述了这一点。Hunter综合征（MPS II型）是一种X连锁遗传性疾病，而所有其他类型的MPS都是常染色体隐性遗传。尽管它几乎只见于男性，但也有少数罕见的女性病例报告。据估计，其发病率在1:100000至1:170000男性出生之间（3）。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Journal of Pediatric Research PEDIATRICS-

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12 weeks