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A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines
We report a case of an eight-year-old boy with mucopolysaccharidosis (MPS) II with atypical skin lesions of hyperpigmented streaks along Blaschko’s lines. This case presented with mild symptoms of MPS such as hepatosplenomegaly, joint stiffness, and quite mild bone deformity, which was the reason fo...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10057584/ https://www.ncbi.nlm.nih.gov/pubmed/36982718 http://dx.doi.org/10.3390/ijms24065647 |
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author | Sofronova, Viktoriia Gurinova, Elizaveta Petukhova, Diana Fukamatsu, Hiroko Yamamoto, Takenobu Aoyama, Yumi Golikova, Polina Moskvitin, Gavril Ivanova, Roza Savvina, Mira Vasilev, Filipp Moriwaki, Takahito Terawaki, Seigo Sukhomyasova, Aitalina Maksimova, Nadezhda Otomo, Takanobu |
author_facet | Sofronova, Viktoriia Gurinova, Elizaveta Petukhova, Diana Fukamatsu, Hiroko Yamamoto, Takenobu Aoyama, Yumi Golikova, Polina Moskvitin, Gavril Ivanova, Roza Savvina, Mira Vasilev, Filipp Moriwaki, Takahito Terawaki, Seigo Sukhomyasova, Aitalina Maksimova, Nadezhda Otomo, Takanobu |
author_sort | Sofronova, Viktoriia |
collection | PubMed |
description | We report a case of an eight-year-old boy with mucopolysaccharidosis (MPS) II with atypical skin lesions of hyperpigmented streaks along Blaschko’s lines. This case presented with mild symptoms of MPS such as hepatosplenomegaly, joint stiffness, and quite mild bone deformity, which was the reason for the delay in diagnosis until the age of seven years. However, he showed an intellectual disability that did not meet the diagnostic criteria for an attenuated form of MPS II. Iduronate 2-sulfatase activity was reduced. Clinical exome sequencing of DNA from peripheral blood revealed a novel pathogenic missense variant (NM_000202.8(IDS_v001):c.703C>A, p.(Pro235Thr)) in the IDS gene, which was confirmed in the mother with a heterozygous state. His brownish skin lesions differed from the Mongolian blue spots or “pebbling” of the skin that are observed in MPS II. |
format | Online Article Text |
id | pubmed-10057584 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-100575842023-03-30 A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines Sofronova, Viktoriia Gurinova, Elizaveta Petukhova, Diana Fukamatsu, Hiroko Yamamoto, Takenobu Aoyama, Yumi Golikova, Polina Moskvitin, Gavril Ivanova, Roza Savvina, Mira Vasilev, Filipp Moriwaki, Takahito Terawaki, Seigo Sukhomyasova, Aitalina Maksimova, Nadezhda Otomo, Takanobu Int J Mol Sci Case Report We report a case of an eight-year-old boy with mucopolysaccharidosis (MPS) II with atypical skin lesions of hyperpigmented streaks along Blaschko’s lines. This case presented with mild symptoms of MPS such as hepatosplenomegaly, joint stiffness, and quite mild bone deformity, which was the reason for the delay in diagnosis until the age of seven years. However, he showed an intellectual disability that did not meet the diagnostic criteria for an attenuated form of MPS II. Iduronate 2-sulfatase activity was reduced. Clinical exome sequencing of DNA from peripheral blood revealed a novel pathogenic missense variant (NM_000202.8(IDS_v001):c.703C>A, p.(Pro235Thr)) in the IDS gene, which was confirmed in the mother with a heterozygous state. His brownish skin lesions differed from the Mongolian blue spots or “pebbling” of the skin that are observed in MPS II. MDPI 2023-03-15 /pmc/articles/PMC10057584/ /pubmed/36982718 http://dx.doi.org/10.3390/ijms24065647 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Sofronova, Viktoriia Gurinova, Elizaveta Petukhova, Diana Fukamatsu, Hiroko Yamamoto, Takenobu Aoyama, Yumi Golikova, Polina Moskvitin, Gavril Ivanova, Roza Savvina, Mira Vasilev, Filipp Moriwaki, Takahito Terawaki, Seigo Sukhomyasova, Aitalina Maksimova, Nadezhda Otomo, Takanobu A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines |
title | A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines |
title_full | A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines |
title_fullStr | A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines |
title_full_unstemmed | A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines |
title_short | A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines |
title_sort | case of mucopolysaccharidosis ii caused by a novel variant with skin linear hyperpigmented streaks along blaschko’s lines |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10057584/ https://www.ncbi.nlm.nih.gov/pubmed/36982718 http://dx.doi.org/10.3390/ijms24065647 |
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