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...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-03-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/24/6/5647 |
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| author | Viktoriia Sofronova Elizaveta Gurinova Diana Petukhova Hiroko Fukamatsu Takenobu Yamamoto Yumi Aoyama Polina Golikova Gavril Moskvitin Roza Ivanova Mira Savvina Filipp Vasilev Takahito Moriwaki Seigo Terawaki Aitalina Sukhomyasova Nadezhda Maksimova Takanobu Otomo |
| author_facet | Viktoriia Sofronova Elizaveta Gurinova Diana Petukhova Hiroko Fukamatsu Takenobu Yamamoto Yumi Aoyama Polina Golikova Gavril Moskvitin Roza Ivanova Mira Savvina Filipp Vasilev Takahito Moriwaki Seigo Terawaki Aitalina Sukhomyasova Nadezhda Maksimova Takanobu Otomo |
| author_sort | Viktoriia Sofronova |
| collection | DOAJ |
| 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 <i>IDS</i> 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. |
| first_indexed | 2024-03-11T06:25:11Z |
| format | Article |
| id | doaj.art-950173f72f3d4e30b17087bfebb27975 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-11T06:25:11Z |
| publishDate | 2023-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-950173f72f3d4e30b17087bfebb279752023-11-17T11:36:57ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-03-01246564710.3390/ijms24065647A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s LinesViktoriia Sofronova0Elizaveta Gurinova1Diana Petukhova2Hiroko Fukamatsu3Takenobu Yamamoto4Yumi Aoyama5Polina Golikova6Gavril Moskvitin7Roza Ivanova8Mira Savvina9Filipp Vasilev10Takahito Moriwaki11Seigo Terawaki12Aitalina Sukhomyasova13Nadezhda Maksimova14Takanobu Otomo15Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, JapanMedical Genetics Center, Republic Hospital No. 1—National Center of Medicine, 677019 Yakutsk, RussiaLaboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, RussiaDepartment of Dermatology, Kawasaki Medical School, Kurashiki 701-0192, JapanDepartment of Dermatology, Kawasaki Medical School, Kurashiki 701-0192, JapanDepartment of Dermatology, Kawasaki Medical School, Kurashiki 701-0192, JapanLaboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, RussiaLaboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, RussiaLaboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, RussiaLaboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, RussiaLaboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, RussiaDepartment of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, JapanDepartment of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, JapanLaboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, RussiaLaboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, RussiaDepartment of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, JapanWe 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 <i>IDS</i> 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.https://www.mdpi.com/1422-0067/24/6/5647mucopolysaccharidosis IIHunter syndromeskin pigmentationBlaschko’s line |
| spellingShingle | Viktoriia Sofronova Elizaveta Gurinova Diana Petukhova Hiroko Fukamatsu Takenobu Yamamoto Yumi Aoyama Polina Golikova Gavril Moskvitin Roza Ivanova Mira Savvina Filipp Vasilev Takahito Moriwaki Seigo Terawaki Aitalina Sukhomyasova Nadezhda Maksimova Takanobu Otomo A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines International Journal of Molecular Sciences mucopolysaccharidosis II Hunter syndrome skin pigmentation Blaschko’s line |
| 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 | mucopolysaccharidosis II Hunter syndrome skin pigmentation Blaschko’s line |
| url | https://www.mdpi.com/1422-0067/24/6/5647 |
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