Idiopathic familial gingival fibromatosis associated with mental retardation, epilepsy and hypertrichosis.

Dev Med Child Neurol

Department of Oral & Maxillofacial Surgery, Beilinson Medical Center, Petah Tiqva, Israel.

Published: August 1989

Gingival fibromatosis, a rare but often familial condition, is described in two siblings, associated with mental retardation, epilepsy and hypertrichosis. In one child a maxillary giant-cell tumour was found and excised. It is important to distinguish idiopathic gingival fibromatosis from phenytoin-induced gingival hypertrophy.

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1469-8749.1989.tb04033.xDOI Listing

Publication Analysis

Top Keywords

gingival fibromatosis
12
associated mental
8
mental retardation
8
retardation epilepsy
8
epilepsy hypertrichosis
8
idiopathic familial
4
gingival
4
familial gingival
4
fibromatosis associated
4
hypertrichosis gingival
4

Similar Publications

Background: Enamel renal gingival syndrome (ERS) is a genetic disorder caused by mutations in the FAM20A gene located on long arm of chromosome 17. It is characterized by presence of intra-oral features like hypoplastic type of amelogenesis imperfecta, fibromatosis of gingiva and nephrocalcinosis in addition to delayed eruption. The oral phenotype is evident in childhood, whereas the renal involvement is clinically silent at this age and requires further investigation for detection at later age.

View Article and Find Full Text PDF

Background: Hereditary gingival fibromatosis (HGF) is one of the categories of non-plaque-induced gingival diseases of genetic origin. Current studies show high genetic heterogeneity and suggest that not all forms of HGF are the same and that more than one biological mechanism may result in gingival growth. This report presents a case of syndromic HGF with generalized and complex clinical manifestations associated with other conditions such as body hypertrichosis and hearing deficit.

View Article and Find Full Text PDF

Enamel Renal Syndrome: A Case Report.

Cureus

October 2024

Oral and Maxillofacial Pathology, Microbiology and Forensic Odontology, Goa Dental College and Hospital, Panjim, IND.

Article Synopsis
  • - Amelogenesis imperfecta is a genetic disorder that affects the enamel of teeth, which can lead to problems in both baby and adult teeth, sometimes linked with other health issues.
  • - A rare condition called enamel renal syndrome occurs when amelogenesis imperfecta is found alongside kidney stones, which complicates diagnosis due to unclear criteria.
  • - The case of a 12-year-old boy with tooth discoloration and kidney stones highlights the importance of thorough medical evaluations to avoid serious complications from these conditions.
View Article and Find Full Text PDF

Role of transglutaminase 2 in promoting biglycan synthesis in idiopathic gingival fibromatosis.

BMC Oral Health

November 2024

Department of Periodontal Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8553, Japan.

Article Synopsis
  • This study investigates the mechanisms behind idiopathic gingival fibromatosis (IGF) by analyzing human gingival fibroblasts (hGFs) from affected patients.
  • RNA sequencing revealed that in IGF, there is a decrease in transglutaminase 2 (TGM2) and an increase in biglycan (BGN) compared to those with periodontitis.
  • The research found that inhibiting specific protein (SP)1 reduces BGN expression, suggesting that SP1 promotes BGN elevation and consequently leads to TGM2 suppression in IGF.
View Article and Find Full Text PDF

Hereditary gingival fibromatosis (HGF) is a rare hereditary condition characterized by abnormal enlargement of the gingival tissue with a variable clinical manifestation. Typically, the hyperplastic gingiva is normal in color and consistency, and the tendency of bleeding is minimal. The swelling may be limited to a particular location or generalized over the whole gingiva.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!