Title : Blau syndrome, case report
Abstract:
Introduction: Blau syndrome is a rare autosomal dominant granulomatous disease. The cardinal signs of this condition are a triad of skin rashes, arthritis, and uveitis. However, the discovery of CARD15 mutations as being at the origin of this syndrome has made it possible to broaden the spectrum of clinical manifestations associated with these mutations, making this syndrome very close clinically to sarcoidosis.
Materials: A 12-year-old child, with no particular history, presents with - diffuse lupoma-type skin involvement overview on dermoscopy. Polyarthritis affecting the large joints with deformities. Sequela of bilateral anterior uveitis The onset of symptoms dates back to the age of 9 months. The patient received corticosteroids for several years.
Results: Blau syndrome and juvenile-onset sarcoidosis are autoinflammatory systemic granulomatosss associated with the NOD2 mutation. The NOD2 gene encodes a protein that is part of the family of intracellular pattern recognition receptors. Blau syndrome and juvenile-onset sarcoidosis are familial and sporadic forms of the same disease, respectively. The classic triad is made up of rash, arthritis, and
uveitis. The disease usually begins before the age of three or four. Onset occurs primarily with skin and joint symptoms. However, symptoms sometimes appear after the age of 10.
Conclusion: Blau Syndrome is a progressive and chronic disease with a variable and often unpredictable spectrum of severity. In case of widespread manifestations, life expectancy may be reduced. Uveitis has a poor prognosis. The diagnosis may be suspect early by a dermatologist by the demonstration of lupoma on vitropression.
On exploration: presence of a biological inflammatory syndrome, immunological assessment was negative and the skin biopsy showed a tuberculoid granuloma without caseous necrosis The genetic investigation is ongoing to research of the NORD2 gene Currently, the patient is on 15 milligrams of acid 4-amino-10- methylfolic and 40 milligrams of adalimumab per week, with good improvement in the skin and joints.
