Hereditary gingival fibromatosis (HGF) is a rare inherited condition with fibromatoid hyperplasia of the gingival tissue that exhibits great genetic heterogeneity. (nature.com)
Hereditary gingival fibromatosis (HGF) is an inherited disease characterized by fibrous overgrowth with pathological, nonhemorrhagic, diffuse or focal, slowly progressive hyperplasia of the gingival tissue, resulting in fibromatous hyperplasia of the gingival tissue. (nature.com)
Introduction: Hereditary gingival fibromatosis (HGF) is a rare condition presenting varied degrees of gingival enlargement. (bvsalud.org)
Conclusion: Hereditary gingival fibromatosis stands apart from other gingival enlargements in the varied treatment options available and the nature of recurrence post treatment. (bvsalud.org)
Mandibular3
Commonly the patient will have mandibular and maxilliary inflammation and overgrowth as opposed to the traditional pink, firm, and fleshy consistency of healthy gingiva. (wikipedia.org)
Case report: A case of a 16-year-old female is reported who presented generalized extensive gingival overgrowth, involving the maxillary and mandibular arches covering almost two thirds to three quarters of all teeth. (bvsalud.org)
Because of the gingival and mandibular overgrowth and dysplasia, tracheal intubation may be difficult. (mhmedical.com)
Hypertrichosis2
There also may or may not be any signs of medical and/or family history of mental retardation, hypertrichosis, nor clinical symptoms that can be associated with gingival enlargement. (wikipedia.org)
The affected individuals have some characteristic cherubic facies as a result of fibrous dysplasia of the mandible associated with gingival fibromatosis and overgrowth that leads to inability to close the mouth. (mhmedical.com)
Fibrous growths of the oral soft tissues are fairly common and include a diverse group of reactive and neoplastic conditions. (medscape.com)
Hyperplasia2
Furthermore, a knock-in mouse model confirmed that heterozygous or homozygous mutations within Zfp513 (p.R250W) or Kif3c (p.R412H) alone do not led to clear phenotypes with gingival fibromatosis, whereas the double mutations led to gingival hyperplasia phenotypes. (nature.com)
Inflammation Hormonal Imbalance Neoplasia More commonly associated with an autosomal dominant gene inheritance Multi-system syndromes: Zimmerman-Laband syndrome, Jones syndrome, Ramon syndrome, Rutherford syndrome, juvenile hyaline fibromatosis, systemic infantile hyalinosis, and mannosidosis Some unknown causes Genetic linkage studies are among the most popular methods of study to look at the mechanism of this HGF. (wikipedia.org)
Genetic2
Noonan and Noonan-like syndromes are multisystem genetic disorders, mainly with autosomal dominant trasmission, caused by mutations in several genes. (biomedcentral.com)
Enamel Renal Syndrome (ERS) is a rare genetic disorder caused by biallelic mutations in Family with sequence similarity 20A (FAM20A) gene encoding the secretory pathway pseudokinase FAM20A. (bvsalud.org)
Clinical1
Orthodontic treatment is responsible for gingival overgrowth (go), a clinical condition charac-terized by pathological, diffuse, or localized growth of gingival tissue. (bvsalud.org)
Dysplasia2
Brother and sister with mesomelic dysplasia (homozygous dyschondrosteosis gene) and a woman with Leri-Weill syndrome. (medscape.com)
Note disproportionately short stature with mesomelic shortening and deformities of forearms and legs (in mesomelic dysplasia) and short forearms with Madelung-type deformity (in Leri-Weill syndrome). (medscape.com)
Tissue5
Treatment was excision of the gingival tissue by a modified gingivectomy technique with both manual instrumentation and electrosurgery. (bvsalud.org)
Hand of a patient with Apert syndrome showing syndactyly (bone and soft tissue). (medscape.com)
Hand of a patient (different patient than in the image above) with Apert syndrome showing syndactyly (soft tissue). (medscape.com)
The objective of this study is to identify and describe the distribution of type I collagen in the gingival tissue of patients with go because of fixed orthodontics. (bvsalud.org)
Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells (summary by Waterham et al. (nih.gov)
Autosomal1
Specific linkage studies have localized the mutation for isolated, nonsyndromic autosomal dominant forms of gingival fibromatosis to chromosomes 2 and 5, more specifically 2p21-p22 and 5q13-q22. (wikipedia.org)
Mutations2
2015). Mutations in mitochondrial genes have also been identified in patients with Leigh syndrome: see MTTV (590105), MTTK (590060), MTTW (590095), and MTTL1 (590050). (beds.ac.uk)
Leigh syndrome may also be caused by mutations in components of the pyruvate dehydrogenase complex (e.g. (beds.ac.uk)
2p21-p221
Current literatures report a defect in the Son of sevenless-1 gene (SOS-1) on chromosome 2p21-p22 (HGF1) as a possible cause of this condition. (bvsalud.org)
Absent1
Rare disorder (about 50 patients reported) characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism, and abnormalities of the cartilage of the nose and/or ears. (mhmedical.com)
Enlargement1
Although, enlargement of gingiva, interdental papilla, hindered speech, and secondary inflammatory changes taking place in the mouth commonly at the marginal gingiva are all very indicative of this condition. (wikipedia.org)
Missense pathogenetic variants of SOS1 gene are the second most common cause of Noonan syndrome (NS) and account approximately for 13% to 17% of cases. (biomedcentral.com)
Disorder1
Leigh syndrome is a clinically and genetically heterogeneous disorder resulting from defective mitochondrial energy generation. (beds.ac.uk)
Cases1
Although involvement of the oral cavity is rare, few cases of oral elastofibromas have been documented in the literature, presenting as asymptomatic submucosal and nodular masses involving the floor of the mouth and hard palate. (medscape.com)
Gene1
Gene(s) directly associated with this condition or phenotype. (nih.gov)
Genes1
Furthermore, the human genome is estimated to contain about 80,000 genes, so many rare syndromes may have yet to be defined. (medscape.com)
Surgical1
Since the disease is prone to recurrence after surgery, HGF patients must undergo repeated surgical procedures of gingival resection, which brings a heavy psychological and economic burden to HGF patients and their families. (nature.com)
Bloom1
Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. (beds.ac.uk)
Patients2
Images depicting the hands of patients with Apert syndrome can be seen below. (medscape.com)
Biochemical studies in patients with Leigh syndrome tend to show increased lactate and abnormalities of mitochondrial oxidative phosphorylation (summary by Lake et al. (beds.ac.uk)
Involvement2
The following classification of otolaryngologic syndromes and conditions is based on system involvement. (medscape.com)
The following classification of otolaryngological syndromes and conditions is based on system involvement. (medscape.com)
Deficiency2
Deficiency of coenzyme Q10 (607426) can present as Leigh syndrome. (beds.ac.uk)
Some forms of combined oxidative phosphorylation deficiency can present as Leigh syndrome (see, e.g., 617664). (beds.ac.uk)
Congenital1
Cutis verticis gyrata (CVG) is a rare disease, congenital or acquired, characterized by the redundancy of skin on scalp, forming thick skin folds and grooves of similar aspect to cerebral cortex gyri. (biomedcentral.com)
Abnormalities1
Desmosterolosis is a condition that is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other signs and symptoms. (nih.gov)
Present1
HGF can present as an isolated entity or as part of a syndrome. (bvsalud.org)
Type2
Infant with Beemer-type (left) and an infant with Majewski-type (right) short-rib syndrome (SRS). (medscape.com)
The late David Smith, MD, a superb dysmorphologist and the original author of the illustrated guide to syndromes entitled Recognizable Patterns of Human Malformation (WB Saunders, Philadelphia), coined the term dysmorphology. (medscape.com)