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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
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

Internet

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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