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Cherubism

CRBM


Presentation

  • A series of 33 patients presenting with cherubism (24 children and 9 of their parents) is presented. The authors discuss the atypical clinical presentations, the relevant associated anomalies and the different treatment strategies.[ncbi.nlm.nih.gov]
Camping
  • The authors argue that the convention view that FD is a disease of cells in the osteogenic lineage related to affects of excess cAMP on bone function is wrong.[fibrousdysplasia.org]
  • Fibrous dysplasia / McCune-Albright syndrome, a sporadically occurring disorder, is caused by an early embryonic postzygotic somatic activating ( gain-of-function ) pathogenic variant in GNAS (encoding the cAMP pathway-associated G-protein, Gsα). 5. 6[ncbi.nlm.nih.gov]
Epilepsy
  • Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis. Am J Med Genet. 25: 433-41, 1986 van Capelle, C.I. et al. Neurofibromatosis presenting with a cherubism phenotype.[genedx.com]
  • […] hyperparathyroidism Can occur in both maxilla & mandible 7 Hyperparathyroidism: serum concentrations of calcium, parathyroid hormone, & alkaline phosphatase 6 Ramon syndrome (OMIM 266270 ) Unknown Unknown Gingival fibromatosis Ramon syndrome: Short stature Epilepsy[ncbi.nlm.nih.gov]
Snoring
  • Ophthalmologic examination Assessment of respiratory status including determining the presence or absence of mouth breathing, snoring, chronic nasal infection, and obstructive sleep apnea.[ncbi.nlm.nih.gov]
Severe Clinical Course
  • Clinical course and progression were also assessed using a 4-point scale (improvement, no changes, modest progression, and marked progression). The patients were followed up for an average of 8.5 years.[ncbi.nlm.nih.gov]
Mouth Breathing
  • Ophthalmologic examination Assessment of respiratory status including determining the presence or absence of mouth breathing, snoring, chronic nasal infection, and obstructive sleep apnea.[ncbi.nlm.nih.gov]
Skin Discoloration
  • To our knowledge, lower lid skin discoloration in Cases 2 and 3 and anisometropic amblyopia in case 3 were not described elsewhere in cherubism cases.[ncbi.nlm.nih.gov]
Osteoporosis
  • A knock-in mouse model with the most common pathogenic variant in human 3BP-2 (p.Pro418Arg) develops severe osteoporosis associated with highly activated osteoclasts, demonstrating that pathogenic variants within this peptide sequence result in a gain-of-function[ncbi.nlm.nih.gov]
Severe Osteoporosis
  • A knock-in mouse model with the most common pathogenic variant in human 3BP-2 (p.Pro418Arg) develops severe osteoporosis associated with highly activated osteoclasts, demonstrating that pathogenic variants within this peptide sequence result in a gain-of-function[ncbi.nlm.nih.gov]
Osteopenia
  • A mouse model carrying a Pro416Arg mutation in SH3BP2 develops osteopenia and expansile lytic lesions in bone and some soft tissue organs.[ncbi.nlm.nih.gov]
Cranial Asymmetry
  • Cranial asymmetry and limb length differences remained unchanged. An increase in bone density was also reported. Elevated levels of alkaline phosphatase and urine hydroxyproline were reduced by the treatment. Long term implications are unknown.[fibrousdysplasia.org]
Hyperactivity
  • A mouse model of cherubism develops hyperactive bone-remodeling osteoclasts and systemic inflammation characterized by expansion of the myelomonocytic lineage. The mechanism by which cherubism mutations alter 3BP2 function has remained obscure.[ncbi.nlm.nih.gov]
  • The damaged parts of bones (hyperactive) take up more of the tracers, which show up more brightly on the scan. Biopsy: A needle biopsy or an open biopsy is confirmatory.[ijps.org]

Treatment

  • In Patient 2, the lesions in mandibular symphysis showed enlargement during the first 8 months of treatment, and thereafter the lesions remained unchanged. Bone formation and resorption markers remained unaffected. The treatment was well tolerated.[ncbi.nlm.nih.gov]

Prognosis

  • KEYWORDS: Cherubism; Giant cell reparative granuloma; NFATc1; Prognosis; Trap[ncbi.nlm.nih.gov]
  • Prognosis Despite the possible severity of signs and symptoms, the condition is benign and the prognosis very good, with rare reports of residual deformity. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • #pic# Differential diagnosis Above all, fibrous dysplasia and other "granulomatous jaw disorders" (histologically Treatment and prognosis There is a gradual reduction in the rate of bony enlargement towards puberty, with the lesions disappearing slowly[med-college.de]
  • Treatment and prognosis Despite the pronounced changes, the disease stabilizes and often regresses without the need for treatment.[radiopaedia.org]
  • However, a 2006 study which followed 7 cases over an average of 8.5 years noted that "In general, cherubism does not have a poor prognosis. It has been noted that the condition does not progress beyond puberty.[en.wikipedia.org]

Etiology

  • The etiology is considered to be a mutation of the SH3BP2 gene from chromosome 4p16.3. Sporadic non-familial cases have also been reported.[ncbi.nlm.nih.gov]
  • Updated, reorganized, and revised throughout, this highly lauded three-volume reference provides an interdisciplinary approach to the diagnosis, treatment, and management of head and neck diseases, including the incidence, etiology, clinical presentation[books.google.com]

Epidemiology

  • Summary Epidemiology The prevalence of cherubism is unknown and is difficult to determine because of the wide clinical spectrum. About 300 cases have been reported in various ethnic groups worldwide. The disorder affects males and females equally.[orpha.net]
  • Epidemiologie – Epidemiology is the study and analysis of the patterns, causes, and effects of health and disease conditions in defined populations.[wikivisually.com]
  • Each entity is extensively discussed with information on clinicopathological, epidemiological, immunophenotypic and genetic aspects of these diseases. This book is in the series commonly referred to as the "Blue Book" series. Contributors: :Dr.[books.google.com]
  • ., 2:1 ratio. [5] Two forms exist hereditary (familial) and nonhereditary (nonfamilial). [9] Epidemiology Cherubism is a very rare disorder with only an estimated 300 cases reported in the literature.[jomfp.in]
Sex distribution
Age distribution

Pathophysiology

  • The data suggest a pathophysiological relationship between mutant SH3BP2 and TNF-α-mediated bone loss by osteoclasts. Therefore, we investigated whether P416R mutant SH3BP2 is involved in TNF-α-mediated osteoclast formation and bone loss.[ncbi.nlm.nih.gov]
  • It is important to improve our current knowledge of pathophysiology of this disorder to evaluate future medical treatment.[bone-abstracts.org]
  • A few lesions have also shown reactive bone and small vascular channels. [2] [4] [8] [9] [10] Pathophysiology The disease is characterized by symmetrical expansile, painless lesions affecting bilateral mandibles and sometimes bilateral maxillae.[eyewiki.aao.org]
  • The role of SH3BP2 in the pathophysiology of cherubism. Orphanet J Rare Dis 2012; 7:S5. 9. Maria E P, Steven AL, Michael AL. Cherubism: best clinical practice. Orphanet J Rare Dis 2012; 7:S6. 10. Caballero R, Vinals H.[journals.lww.com]

Prevention

  • Recent findings in the cherubism mouse model suggest that TNF-α plays a major role in disease pathogenesis and that removal of TNF-α prevents development of the bone phenotype.[ncbi.nlm.nih.gov]
  • The astigmatism was too large and axes too variable during eye movements to be corrected with spectacles, and the retraction of the lower lid prevented a proper fitting of contact lens.[doi.org]
  • Naturally, genetic testing is the only way of prevention. However, the gene responsible for it is sometimes known to undergo spontaneous mutation. In these cases, there is no way of preventing the disorder.[primehealthchannel.com]

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