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Test Paper 4
Published in Teck Yew Chin, Susan Cheng Shelmerdine, Akash Ganguly, Chinedum Anosike, Get Through, 2017
Teck Yew Chin, Susan Cheng Shelmerdine, Akash Ganguly, Chinedum Anosike
Mazabraud syndrome refers to the association of polyostotic fibrous dysplasia with multiple soft-tissue myxomas, which are typically intramuscular. Cherubism is a special form of fibrous dysplasia with symmetric involvement of both the maxilla and mandible. It typically affects men and tends to regress after adolescence.
Musculoskeletal system
Published in David A Lisle, Imaging for Students, 2012
Cherubism, a rare condition characterized clinically by symmetrical swelling of the face, is often described incorrectly as a form of fibrous dysplasia. Cherubism is an autosomal disorder presenting in early childhood. Facial swelling increases to puberty followed by spontaneous regression. Imaging with radiography and CT shows symmetrical expansion of mandible and maxilla with multiloculated osteolytic lesions.
Clefts and craniofacial
Published in Tor Wo Chiu, Stone’s Plastic Surgery Facts, 2018
In addition, Active fibrous dysplasia may show elevated serum alkaline phosphatase and urine hydroxyproline (indicating bone turnover). The X-ray appearance is usually distinctive enough to make the diagnosis – ground glass appearance, expansion/deformity; MRI may provide additional information including malignant change.(McCune)–Albright’s disease is fibrous dysplasia combined with patchy skin pigmentation and precocious puberty (due to pituitary tumours). Inheritance is AD. Patients also have short neck and short metacarpals/metatarsals due to early epiphyseal closure.Cherubism is a familial form (AD) of polyostotic fibrous dysplasia that presents early and affects the maxilla and mandible. It may regress (after puberty), but some form of corrective surgery especially for dental or aesthetic considerations is appropriate in certain cases. Some view it as a giant cell granuloma rather than fibrous dysplasia. There is an association with mutation of the SH3BP2 gene that activates osteoclasts. It is rare with about 300 cases described in the literature.A family with several affected members was described by Jones WA in 1933.There is a 0.5% incidence of osteosarcoma, which may be increased by radiotherapy.
Bone dynamics and inflammation: lessons from rare diseases
Published in Immunological Medicine, 2020
Yoshinori Matsumoto, Robert Rottapel
Cherubism is a rare hereditary syndrome associated with severe craniofacial dysmorphia in children, which was first described by Jones WA [7]. It was named accordingly because the ‘heavenly gaze’ caused by the facial changes in some affected children resemble the cherubs famously depicted in Raphael’s Sistine Madonna (1512). Cherubism is characterized by bilateral enlargement of the mandible and/or maxilla caused by bone resorption, bone cyst formation, displacement of the position of the permanent teeth, and upturned tilting eyes caused by the involvement of the infraorbital rim and orbital floor. Cherubism generally progresses until puberty, followed by spontaneous regression.