Cherubism

Cherubism: Description, Causes and Risk Factors:Hereditary giant cell lesions of the jaws beginning in early childhood; multilocular radiolucencies and progressive symmetric painless swelling of the jaws; bilateral; occurs with no associated systemic manifestations.Cherubism is a childhood disease that exhibits an autosomal dominant hereditary pattern with variable expression. The penetrance can be up to 100% in males and up to 70% in females. Some sporadic cases have been described with no apparent familial history. Mutation of the gene encoding for ?broblast growth factor receptor III (FGF-RIII) has also been found in some cases of cherubism. The condition constitutes an uncommon, benign ?broosseous lesion that results in progressive, painless, symmetrical expansion of the jaws with a predilection for the mandible, resulting in a cherubic facial appearance. Affected children appear normal at birth. Bilateral swelling tends to occur between 2 and 4 years of age. An increase in jaw size is noted, with maximum enlargement occurring within 2 years of onset in most cases. By age 7, the lesions become static or progress relatively slowly until puberty. During the late teens, the disease may undergo spontaneous involution, with regression of the maxillary lesions tending to occur earlier than those in the mandible. Facial appearance may return to almost normal by the fourth or ?fth decade. However, some patients seek surgical recontouring of their residual deformity during their twenties.About 200 cases of cherubism have been reported in medical publications. The medical community believes the condition is more common, although extremely rare. Cherubism has been documented internationally and among all races. Twice as many cases have been documented in boys/men as girls/women.CherubismGenetic research conducted using the tissue of individuals in multi-generation families with members diagnosed with cherubism has led to the conclusion that some cases of cherubism may be attributed to mutations in the protein SH3BP2, which is coded for by a gene on the 4th chromosome. The pattern of inheritance in studied multi-generation families suggests that the gene is autosomal dominant. This means that a single affected parent can transmit the condition to their children and that, on average, 50% of their children will receive the gene. However, spontaneous cases do arise. The condition has a varied penetrance, meaning that symptoms of the condition can be different among individuals within the same family who carry the gene. In studied multi-generation families, scientists have found that all boys and men with the gene express it (display symptoms), while some (30-50% of) girls and women with the gene do not.Symptoms:The earlier the lesion appears the more rapidly it progresses.
  • Jaw lesions are usually painless and symmetric.
  • The swelling is not appreciated in the beginning as it mostly occurs in children, it is noticed only when the mandibular swelling becomes larger and detectable in the 3rd decade of life.
  • In case of maxillary swelling the pressure on the floor or orbit may results in upward looking pupil which is referred to as “heaven ward look” the maxillary arch achieves a V shaped appearance.
  • Increased cheek fullness, expansion and widening of alveolar ridge, flattening of the palatal vault.
  • Submandibular swelling which is due to chronic lymphadenopathy.
  • Bilaterally symmetrical enlargement of the jaw.
  • The main diagnostic features are related to dental problems.
  • Premature exfoliation of deciduous teeth.
  • Abnormal growth of permanent teeth due to displacement by cysts and lesions.
  • Absence of 2nd and 3rd mandibular molars.
Diagnosis:The lesions of cherubism are not distinctive histologically and are difficult to differentiate from othergiant cell-containing ?bro-osseous disorders. As a result, the diagnosis also depends on the clinical ?ndings. Microscopy shows a highly vascular ?brousstroma with unevenly distributed osteoclastic-likemultinucleated giant cells that tend to cluster nearhemorrhagic foci and deposits of hemosiderin.Vascular channels are well formed and lined by largeendothelial cells.The presence of eosinophilic, collagenous material around small capillaries is of valuein the diagnosis of cherubism.Mature lesions exhibit more dense ?brous tissue, while the number ofmultinucleated giant cells decreases.Treatment:Because cherubism is considered to be a self-limiting condition that improves over time, treatment depends on the individual patient's functional and esthetic needs. Most investigators prefer to wait until the end of puberty before performing surgery. Early surgical intervention is contraindicated because it appears to predispose to recurrences. Surgery is only indicated in cases characterized by impaired speech, chewing or swallowing difficulties, or with the presence of major deformities that may cause psychological problems for the patient. Clinical management and surgical treatment decisions are dependent upon individual evaluation in accordance with the degree of disease involvement. Surgical treatment appears to be unnecessary for grade 1 and 2 cases in the absence of secondary disturbances. Excision of tissue through enucleation or curettage appears to be necessary in more aggressive cases (grade 3), to reduce maxillofacial deformity after puberty and to ensure a successful outcome without the risk of progression requiring additional resection.NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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