[Autoinflammatory bone disorders in childhood]. / Autoinflammatoriske knoglesygdomme i barnealderen.

Chronic non-bacterial osteomyelitis (CNO) is an autoinflammatory disease with unpredictable, painful courses of osteolytic lesions in the bones. CNO is frequently associated with psoriasis and inflammatory bowel disease. In cases with multifocal lesions the term chronic recurrent multifocal osteomyelitis (CRMO) is preferably used. SAPHO (synovitis, acne, pustulosis palmoplantaris, hyperostosis and osteitis) syndrome is regarded as CRMO in adults. New knowledge of the hereditary forms like Majeed syndrome, deficiency of IL-1-receptor antagonist and cherubism is described.

The role of SH3BP2 in the pathophysiology of cherubism.

Cherubism is a rare bone dysplasia that is characterized by symmetrical bone resorption limited to the jaws. Bone lesions are filled with soft fibrous giant cell-rich tissue that can expand and cause severe facial deformity. The disorder typically begins in children at ages of 2-5 years and the bone resorption and facial swelling continues until puberty; in most cases the lesions regress spontaneously thereafter. Most patients with cherubism have germline mutations in the gene encoding SH3BP2, an adapter protein involved in adaptive and innate immune response signaling. A mouse model carrying a Pro416Arg mutation in SH3BP2 develops osteopenia and expansile lytic lesions in bone and some soft tissue organs. In this review we discuss the genetics of cherubism, the biological functions of SH3BP2 and the analysis of the mouse model. The data suggest that the underlying cause for cherubism is a systemic autoinflammatory response to physiologic challenges despite the localized appearance of bone resorption and fibrous expansion to the jaws in humans.

Autoinflammatory bone disorders.

PURPOSE OF REVIEW: This review provides an update on clinical, genetic, and immunologic aspects of the autoinflammatory bone disorders. RECENT FINDINGS: Chronic noninfectious inflammation of the bone is a clinical feature of both chronic recurrent multifocal osteomyelitis and (to a lesser degree) cherubism. The genes responsible for Majeed syndrome (LPIN2), murine chronic multifocal osteomyelitis (pstpip2), and cherubism (SH3BP2 and possibly PTPN11) have been identified. Murine models of both chronic recurrent multifocal osteomyelitis and cherubism have demonstrated that the bone inflammation is mediated by hematopoietically derived cells and can occur in the absence of a functioning adaptive immune system. As the immunologic defects become better defined, the cells of the myeloid lineage are emerging as the primary players. SUMMARY: Chronic multifocal osteomyelitis and cherubism are hereditary chronic inflammatory disorders in which bone is the primary inflammatory target. Recent genetic and immunologic discoveries demonstrate involvement of the innate immune system, which places these entities in the category of autoinflammatory disorders.

Cherubism: long-term follow-up of 2 patients in whom it regressed without treatment.

Cherubism is a rare hereditary, self-limiting fibrous dysplasia characterised by painless enlargement of the jaws in childhood. Although, it is accepted that the lesions of cherubism are eventually replaced by bone, there have been few long-term follow-up reports with clinicoradiographic documentation of spontaneous remission of the disease, without treatment. We report two cases of cherubic boys who were followed for 17 and 19 years. Clinicoradiographic examination during this period showed regression of the disease without surgical correction.

Aggressive behaviour of cherubism in a teenager: 4-years of clinical follow-up associated with radiographic and histological features.

Cherubism is a rare hereditary fibro-osseous childhood disease characterized by bone degradation and fibrous tissue replacement at the angles of the mandible and at the tuberosity areas of the maxilla that leads to prominence of the lower face and an appearance reminiscent of the cherub's portrayal in Renaissance art. This disease has an autosomal dominant hereditary characteristic. The purpose of this report is to analyse laboratory tests, clinicopathological and radiographic features of cherubism and its intraoral manifestations in a patient during 4-years of follow-up, correlating the features observed in this case with those of the literature. Also discussed is the atypical and aggressive behaviour of this case during puberty.

[Cherubism: regression of the lesions and spontaneous bone regeneration]. / Le chérubisme : régression des lésions et régénération osseuse spontanée.

Three cases of cherubism belonging to the same genealogical tree which had been followed up since the age of 7 years to adulthood are presented. These cases prove that, without treatment, the regression of the lesions and bone regeneration are real and not anecdotal. Nevertheless, following spontaneous bone regeneration, radiographically some radiolucent areas of low intensity and devoid of trabeculations, and/or areas of sclerotic bone do persist. In one case, cherubism was associated with peripheral giant cell granulomas localized in areas not affected by cherubism.

Cherubism--an initial unilateral presentation.

An unusual presentation of cherubism is reported owing to the initial unilateral nature and late onset of occurrence. A classification for cherubism is proposed and the difficulty in diagnosis of unilateral cases is discussed.