A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:International Journal of Molecular Sciences
Subjects:
mucopolysaccharidosis II
Hunter syndrome
skin pigmentation
Blaschko’s line
Online Access:https://www.mdpi.com/1422-0067/24/6/5647

Internet

https://www.mdpi.com/1422-0067/24/6/5647

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