Abstract:
:The proband in this study was a 4-year-old Mexican girl with Blau syndrome. She and her affected family members had skin rash and arthritis but no uveitis. Exome sequencing and DNA direct sequencing from blood samples revealed a novel nucleotide-binding oligomerization domain-containing protein 2 gene mutation in the affected family members. This study is the first report of a Mexican family with Blau syndrome showing good infliximab treatment response. The novel mutation in the nucleotide-binding oligomerization domain-containing protein 2 gene (c.1808A>G) enriches the mutation spectrum in Blau syndrome. This family represents one of the few cases of autosomal Blau syndrome with no uveitis; because of phenotype variability, it is important to recognize Blau syndrome's clinical spectrum and recommend genetic consultation.
journal_name
Pediatr Dermatoljournal_title
Pediatric dermatologyauthors
Toral-López J,González-Huerta LM,Martín-Del Campo M,Messina-Baas O,Cuevas-Covarrubias SAdoi
10.1111/pde.13475subject
Has Abstractpub_date
2018-05-01 00:00:00pages
e180-e183issue
3eissn
0736-8046issn
1525-1470journal_volume
35pub_type
杂志文章abstract::Tetracycline is well known to cause pigmentation of various body tissues, such as teeth, bone, lunulae, conjunctivae, and lymph nodes. It has not been reported to cause discoloration of the skin, unlike its semisynthetic derivative, minocycline. We report an 18-year-old girl who developed lower extremity pigmentation ...
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journal_title:Pediatric dermatology
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journal_title:Pediatric dermatology
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journal_title:Pediatric dermatology
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journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
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journal_title:Pediatric dermatology
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journal_title:Pediatric dermatology
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doi:10.1111/pde.12978
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