Blau syndrome is an autosomal dominant chronic inflammatory disease, which may begin with skin manifestations in the first months of life, alerting physicians to the diagnosis. This case reports a patient diagnosed jointly by pediatric dermatology and rheumatology consultants at two years of age.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.5070/D330363869 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Blau syndrome-the skin as a warning sign.
Dermatol Online J
June 2024
Division of Pediatric Dermatology, Department of Pediatrics, Federal University of Parana, Curitiba, Brazil.
Blau syndrome is an autosomal dominant chronic inflammatory disease, which may begin with skin manifestations in the first months of life, alerting physicians to the diagnosis. This case reports a patient diagnosed jointly by pediatric dermatology and rheumatology consultants at two years of age.
View Article and Find Full Text PDFCase Report: Methotrexate and hydroxychloroquine in combination for the treatment of NOD2-mutation-associated Blau syndrome.
Front Immunol
November 2023
Department of Dermatology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, United States.
Mutations in nucleotide binding oligomerization domain containing 2 receptor (NOD2) are associated with Blau syndrome (also known as early-onset sarcoidosis)-a rare autosomal dominant, chronic granulomatous disease that typically presents before 5 years of age. Blau syndrome is characterized by the clinical triad of arthritis, granulomatous dermatitis, and recurrent uveitis. Here, we report a case of NOD2-mutation-associated early-onset sarcoidosis in which a combination of methotrexate and hydroxychloroquine was used to achieve improvement in arthritis, granulomatous dermatitis, and uveitis.
View Article and Find Full Text PDFFirst report of liver transplantation in Blau syndrome: The challenges faced in this rare granulomatous liver disease.
Transpl Immunol
April 2021
Cambridge Liver Unit, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge CB2 0QQ, UK. Electronic address:
Blau syndrome is a rare autoinflammatory granulomatous disease caused by variants in the NOD2 gene, classically presenting in childhood. Hepatic manifestations are recognized including cholestasis and granulomatous liver disease. We describe a novel NOD2 gene variant c.
View Article and Find Full Text PDFPeriodic Fever: A Review on Clinical, Management and Guideline for Iranian Patients - Part II.
Iran J Pediatr
June 2014
Children's Medical Center, Pediatrics Center of Excellence.
Article Synopsis
- Periodic fever syndromes are diseases marked by recurring fever episodes separated by normal health periods, with the paper focusing on their diagnosis and management in patients, particularly in Iran.* -
- The first part of the paper covered common disorders like familial Mediterranean fever (FMF) and PFAPA, while the second part dives into a variety of other autoinflammatory disorders including hyper IgD syndrome, TRAPS, and various cryopyrin-associated conditions.* -
- Additionally, the paper categorizes autoinflammatory bone disorders into monogenic and sporadic groups, discussing conditions like PAPA syndrome, Majeed syndrome, chronic recurrent multifocal osteomyelitis, and others that are less common in the Iranian registry.*
Blau syndrome, the prototypic auto-inflammatory granulomatous disease.
Pediatr Rheumatol Online J
May 2015
Division of Rheumatology Alfred I. duPont Hospital for Children, Pediatrics Thomas Jefferson University, Wilmington, Delaware, USA.
Blau syndrome is a monogenic disease resulting from mutations in the pattern recognition receptor NOD2, and is phenotypically characterized by the triad of granulomatous polyarthritis, dermatitis and uveitis. This paper reviews briefly the classical clinical features of the disease, as well as more recently described extra-triad symptoms. From an ongoing prospective multicenter study, we provide new data on the natural history of Blau syndrome, focusing on functional status and visual outcome.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!