Cherubism Combined with Epilepsy, Mental Retardation and Gingival Fibromatosis (Ramon Syndrome): A Case Report

Abstract

Cherubism is an inherited, autosomal dominant disorder that characteristically affects the jaws of children. The disease typically manifest as a bilateral swelling with associated submandibular lymph node enlargements and usually regresses as age advances. The disease is microscopically indistinguishable from other giant cell lesions and is essentially a clinical diagnosis. The association of cherubism with gingival fibromatosis, epilepsy, mental retardation, stunted growth, and hypertrichosis is referred as Ramon syndrome. We report a case of Ramon syndrome in an 8 year old girl.

Cherubism: A Case Report

“…Cherubism has also been reported to be associated with Ramon syndrome [13] and Jaffe-Campanacci syndrome [10]. Ramon syndrome is extremely rare with only eight cases reported in the literature and presents with mental retardation, short stature, gingival fibromatosis and epilepsy [13,14]. JaffeCampanacci syndrome [15], which includes non-ossifying fibromas that can be localized in long bones and/or jaw bones, mental retardation, café au lait spots, hypogonadism, ocular and cardiovascular anomalies is also rare [16].…”

Eponyms related to genetic disorders associated with gingival enlargement; part I

“…Ramon syndrome [12] This syndrome comprises the association of cherubism with gingival fibromatosis, epilepsy, mental retardation, stunted growth, and hypertrichosis.Named after an oral surgeon, Yochanan Ramon who and his colleagues reported the condition in 1967.…”

Pediatric Fibroblastic and Myofibroblastic Lesions

“…JHF and ISH are now known to be a consequence of germline mutations in the ANTXR2 gene (CMG2: capillary morphogenesis gene-2) on chromosome 4q21. 27 Lesions that are histologically similar, with varying degrees of fibrosis are also described associated with drugs such as phenytoin and calcium channel blockers. Analysis of fibroblasts derived from patients with JHF or ISH suggests that CMG2 mutations abrogate normal cell interactions with the extracellular matrix 19 and perturbation of basement-membrane matrix assembly has been implicated as the cause of the characteristic perivascular hyaline deposition seen in these conditions.…”