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[Blau syndrome in monozygotic twins]
Nils Milman1, Annette Hansen, Thomas van Overeem Hansen
1H:S Rigshospitalet, Hjertecentret, Afsnit for Lungetransplantation, Reumatologisk Afdeling, København Ø. milman@rh.dk
Ugeskrift for Laeger
|October 31, 2006
Summary
Blau syndrome, a rare genetic inflammatory disease, presented identically in monozygotic twins. Early symptoms included rash, arthritis, and uveitis, successfully managed with immunosuppressants like infliximab.
Area of Science:
- Genetics
- Rheumatology
- Ophthalmology
Background:
- Blau syndrome is a rare, autosomal dominant inflammatory disorder.
- It typically presents in childhood with a triad of dermatitis, arthritis, and uveitis.
Observation:
- This case report details the identical presentation and 19-year follow-up of monozygotic twins with Blau syndrome.
- Both twins developed maculopapulous exanthema at age one, followed by arthritis, periarticular swelling, and uveitis at age eight.
Findings:
- Skin biopsies revealed epithelioid granulomas with multinucleated giant cells.
- Genetic analysis identified a de novo R334W mutation in the CARD15 gene in both twins.
- Treatment with prednisolone, methotrexate, and later infliximab resulted in good clinical control.
Implications:
- This case highlights the strong genetic basis and identical disease course in monozygotic twins with Blau syndrome.
- It underscores the efficacy of early and combined immunosuppressive and biologic therapy in managing Blau syndrome.
- Long-term follow-up demonstrates the potential for good clinical outcomes with appropriate management.
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