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


ABSTRACT: 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.

SUBMITTER: Sofronova V 

PROVIDER: S-EPMC10057584 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature

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

Sofronova Viktoriia V   Gurinova Elizaveta E   Petukhova Diana D   Fukamatsu Hiroko H   Yamamoto Takenobu T   Aoyama Yumi Y   Golikova Polina P   Moskvitin Gavril G   Ivanova Roza R   Savvina Mira M   Vasilev Filipp F   Moriwaki Takahito T   Terawaki Seigo S   Sukhomyasova Aitalina A   Maksimova Nadezhda N   Otomo Takanobu T  

International journal of molecular sciences 20230315 6


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 a  ...[more]

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