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

Hitay İnan, A; Şeker Yılmaz, B; Bulut, FD; Kılavuz, S; Kor, D; Karakaş, M; Önenli Mungan, HN; (2021) Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign. The Journal of Pediatric Research , 8 (2) pp. 206-208. 10.4274/jpr.galenos.2020.82621. Green open access

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Abstract

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.

Type: Article
Title: Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign
Open access status: An open access version is available from UCL Discovery
DOI: 10.4274/jpr.galenos.2020.82621
Publisher version: http://doi.org/10.4274/jpr.galenos.2020.82621
Language: English
Additional information: This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 (CC BY-NC-ND) International License.
Keywords: Mucopolysaccharidosis, Hunter disease, pebbling sign
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10129778
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