Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis

Abstract

This is a report on four persons in one family with a condition similar to that described by Ramon et al [Oral Surg 24:436-48, 1967] in two sibs born to a consanguineous couple. Our patients also had mental deficiency, epilepsy, cherubism due to fibrous dysplasia of the maxillae, gingival fibromatosis, hypertrichosis, and stunted growth. This appears to be an autosomal recessive trait in both families. Our patients are the second set reported with this syndrome; they also have juvenile rheumatoid arthritis, which was not described in the family reported by Ramon et al [Oral Surg 24:436-48, 1967]. We conclude that the Ramon syndrome should also include juvenile rheumatoid arthritis.

Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition?

“…Our patients had neither optic, nor skin involvement. Patients with Ramon syndrome not only show gingival fibromatosis, hypertrichosis, mental retardation and epilepsy like our patients but are in addition characterized by cherubism and short stature [de Pina Neto et al, 1986]. Our patients' height corresponded to the 25th centile.…”

“…Numerous syndromes are described characterized by gingival hypertrophy and mental retardation [Zimmermann, 1928;Lä wen, 1929;Laband et al, 1964;Snyder, 1965;Houston and Shotts, 1966;Winter and Simpkiss, 1974;Cross et al, 1967;de Pina Neto, 1986, 1988Chodirker et al, 1986;Anavi et al, 1989;Kiss , 1990;Takagi et al, 1991;Pfeiffer et al, 1992;Chadwick et al, 1994;Lacombe et al, 1994;Pavone et al, 1996Pavone et al, , 1997.…”

Hereditary gingival fibromatosis (HGF) with hypertrichosis is unlinked to the HGF1 and HGF2 loci

“…Hereditary gingival fibromatosis (HGF; MIM 135300) is a progressive hyperplasia of gingival tissues, occurring either as an isolated feature [Bozzo et al, 1994] or in association with a few syndromes [Jones et al, 1977;Hartsfield et al, 1985;Pina-Neto et al, 1986;Wynne et al, 1995]. Gingival fibromatosis may be induced also by certain drugs, such as phenytoin, a tendency that could have a genetic basis [Hassell and Hefti, 1991].…”

Cherubism: A Case Report

“…Cases of cherubism associated with other disorders such as fragile X syndrome, gingival fibromatosis with psychomotor retardation, neurofibromatosis type 1, and craniosynostosis have been published in the literature [10][11][12]. 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].…”

“…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].…”