Blau syndrome: a case report from Palestine.

Area of Science:

• Genetics
• Ophthalmology
• Rheumatology

Background:

• This case study details the first familial Blau syndrome (BS) identified in Palestine.
• Blau syndrome is a rare autoinflammatory disorder characterized by the triad of granulomatous dermatitis, arthritis, and uveitis.

Observation:

• An 18-year-old female, initially misdiagnosed with Juvenile Idiopathic Arthritis (JIA), presented with bilateral intermediate uveitis and camptodactyly.
• Her sister and father also exhibited similar symptoms, including uveitis and camptodactyly, indicating a familial pattern.
• Despite 16 years of treatment with steroids and methotrexate, the patient's ocular inflammation remained uncontrolled.

Findings:

• Genetic analysis revealed a shared R334q mutation in the CARD15/NOD2 gene among all affected family members.
• The mutation in CARD15/NOD2 is a known genetic cause of Blau syndrome.

Implications:

• Blau syndrome should be considered in the differential diagnosis of childhood uveitis, particularly in resource-limited settings where misdiagnosis is common.
• Effective management of Blau syndrome requires a combination of immunosuppressants and biologics, as steroids alone are insufficient.
• Genetic testing for CARD15/NOD2 mutations is essential for accurate diagnosis and timely intervention in suspected Blau syndrome cases.