Postpubertal cherubism with Noonan syndrome

Abstract

Cherubism is a self limiting, autosomal dominant, fibro-osseous lesion of the maxillo facial region affecting the young adults. The etiology is considered to be a mutation of the SH3BP2 gene from chromosome 4p16.3. Sporadic non-familial cases have also been reported. The affected subjects usually present with simultaneous, bilateral swellings of the maxillae and/or mandible, premature loss of primary teeth, malocclusion due to disturbed eruption pattern of permanent teeth and a characteristic chubby faced angelic eyed appearance. This usually presents as an isolated finding, however, it can exist in association with syndromes like Noonan's syndrome, Jaffe syndrome, Gardener syndrome and Ollier's disease. Treatment is focused on the exact genetic diagnosis and management of symptomatic conditions utilizing cosmetic surgery and orthodontics. Genetic counselling of the affected families may help to decrease its incidence. This report presents a rare case of cherubism with associated features of Noonan syndrome.