Mandibulanın nadir multiloküle kistik hastalığı: Şerubizm

Çerubizm maksilla ve mandibulaya yerleşim gösteren iki yanlı, simetrik, fibroosseöz, multiloküler kistik lezyonlarla karakterize nadir bir iskelet displazisidir. Çoğu olguda 4p kromozomu dominant SH3BP2 gen mutasyonu saptanır. Etkilenen çocuklar doğum sonrasında normal görünüme sahipken, 2 ile 7 yaşlar arasında çenelerde şişlik ve genişleme gelişmeye başlar. Dolgun yuvarlak yanak ve gözlerin yukarı kayması çocukların tipik görüntüsünü oluşturur. Mandibulanın birçok kistik lezyonundan farklı olarak, radyolojik olarak yaygın kemik tutulumu gösterdiği halde kendiliğinden gerileyen, zaman içinde kemikleşen ve yıllar sonra tanınmaz izler bırakma ihtimaline sahip bir tümördür. Burada bu nadir görülen hastalığa sahip olgu ve klinik bulguları sunuldu.

Anahtar Kelimeler:

Çerubizm, mandibula, multiloküler kemik kisti

A rare multilocular cystic disease of mandible: cherubism

Cherubism is a rare skeletal dysplasia located to the maxilla and mandible which is characterized by bilateral, symmetric, fibro-osseous and multilocular cystic lesions. In most of the cases, dominant mutations are detected in the SH3BP2 gene on chromosome 4p. While affected children seem to be clinically normal at birth, whose jaws start swelling and enlargement between 2 and 7 years of age. Full round cheek and upward tilting of the eyes consist of typical appearance of children. Apart from various cystic lesions of mandible, cherubism is a tumor which regresses spontaneously, ossifies over time and has a likelihood for leaving unrecognizable remnants after years, although radiologically, extensive bone involvement appears. Presented here was a patient who suffered from this rare disease and his clinical findings.

Keywords:

cherubism, mandible, multilocular bone cyst,

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Papadaki ME, Lietman SA, Levine MA, Olsen BR, Kaban LB, Re- 1.
ichenberger EJ. Cherubism: best clinical practice. Orphanet
Journal of Rare Diseases 2012, 7(Suppl 1):S6.
Kozakiewicz M, Perczynska-Partyka W, Kobos J: Cherubism–clin- 2.
ical picture and treatment. Oral Dis 2001, 7(2):123-30.
Raposo-Amaral CE, de Campos Guidi M, Warren SM, Almeida AB, 3.
Amstalden EM, Tiziane V, Raposo-Amaral CM. Two-stage surgical
treatment of severe cherubism. Annals of Plastic Surgery 2007, 58(6):645-51.
Ozan B, Muğlali M, Celenk P, Günhan O. Postpubertal nonfamilial 4.
cherubism and teeth transposition. Journal of Craniofacial Sur
gery 2010, 21(5):1575-7.
Arnott DG. Cherubism–an initial unilateral presentation. British 5.
Journal of Oral Surgery 1978, 16(1):38-46.
Kalantar Motamedi MH. Treatment of cherubism with locally ag- 6.
gressive behavior presenting in adulthood: report of four cases
and a proposed new grading system. Journal of Oral & Maxil
lofacial Surgery 1998, 56(11):1336-42.
Timoşca GC, Galeşanu RM, Cotutiu C, Grigoraş M. Aggressive 7.
form of cherubism: report of a case. Journal of Oral & Maxillofa
cial Surgery. 2000, 58(3):336-44.
Jones WA. Familial multilocular cystic disease of the jaws. Ameri- 8.
can Journal of Cancer. 1933,17: 946-50.
Wayman JB. Cherubism: a report on three cases. British Journal 9.
of Oral Surgery. 1978, 16(1): 47-56. 10. Colombo F, Cursiefen C, Neukam FW, Holbach LM. Orbital involve
ment in cherubism. Ophthalmology. 2001, 108(10):1884-8. 11. Font RL Font RL, Blanco G, Soparkar CN, Patrinely JR, Ostrowski
ML. Giant cell reparative granuloma of the orbit associated with
cherubism. Ophthalmology. 2003, 110(9):1846-9. 12. Gomes MF Gomes MF, de Souza Setubal Destro MF, de Freitas
Banzi EC, dos Santos SH, Claro FA, de Oliveira Nogueira T. Ag
gressive behaviour of cherubism in a teenager: 4-years of clini
cal follow-up associated with radiographic and histological fea
tures. Dentomaxillofac Radiol. 2005, 34(5):313-8. 13. Lietman SA Lietman SA, Kalinchinko N, Deng X, Kohanski R,
Levine MA. Identification of a novel mutation of SH3BP2 in
cherubism and demonstration that SH3BP2 mutations lead to
increased NFAT activation. Hum Mutat. 2006, 27(7):717-8.