Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes

Abstract

BS is associated with severe ocular and articular morbidity. Visceral involvement is common and may be life-threatening. Bone dysplastic changes may show diagnostic value and suggest a previously unknown role of NOD2 in bone morphogenesis. BS is resistant to current drugs, suggesting the need for novel targeted therapies.

Blau Syndrome: An Unusual Cause of Hypercalcemia in a Child

“…Some patients do not present with the usual clinical triad but rather several non-triad systemic, vascular, and visceral organ presentations have been reported such as fever, lymphadenopathy, hepatosplenomegaly, hypertension, and renal impairment (9,11,12). Our patient presented with profound and symptomatic hypercalcemia.…”

“…However, despite combination therapy, some patients continue to have active disease (12). The addition of adalimumab, a tumor necrosis factor alpha inhibitor, has controlled our patient's disease and her serum calcium concentration remains in the normal range.…”

“…Our patient presented with profound and symptomatic hypercalcemia. Although hypercalcemia or hypercalciuria may be found in up to 30% of sarcoidosis cases in older children (8), to our knowledge there are few reports of hypercalcemia or nephrocalcinosis (a possible indicator of hypercalcemia) in patients with early-onset sarcoidosis or Blau syndrome (11)(12)(13)(14).…”

Diagnosis and Treatment of Blau Syndrome/Early-onset Sarcoidosis, an Autoinflammatory Granulomatous Disease, in an Infant

“…BS (OMIM 186580) and EOS (OMIM 609464) are caused by a mutation in the NOD2 gene, located on chromosome 16q12.2-13. The NOD2 gene is encoding a protein in the NOD-like receptor family (NLR), which is expressed in macrophages, dendritic cells and epithelial cells and function as regulators of apoptosis and activation of nuclear factor kappa β (NFkβ) (3,4). The activation of NF-kβ is 4 times higher in persons with BS (5).…”

“…Previously, 208 cases of BS have been identified (62 sporadic and 146 inherited) in 2014 (3). In a recent international registry study from 2015, a further 31 cases of Blau syndrome from 11 countries were identified (20 with sporadic and 11 inherited) (4). BS/ EOS is clinically presented by granulomatous skin eruption, recurrent uveitis, and polyarthritis.…”