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Fibromatosis, gingival, 1(GINGF1)

MedGen UID:
1647111
•Concept ID:
C4551558
•
Disease or Syndrome
Synonym: Hereditary gingival fibromatosis, 1
 
Gene (location): SOS1 (2p22.1)
 
Monarch Initiative: MONDO:0007609
OMIM®: 135300

Definition

Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene. [from MONDO]

Clinical features

From HPO
Gingival fibromatosis
MedGen UID:
42017
•Concept ID:
C0016049
•
Finding
The presence of fibrosis of the gingiva.
See: Feature record | Search on this feature
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Anesthetic Management of a Juvenile Hyaline Fibromatosis Patient With Trismus and Cervical Movement Limitation.
Yasuda A, Miyazawa N, Inoue E, Imai T, Shionoya Y, Nakamura K
Anesth Prog 2021 Jun 1;68(2):117-118. doi: 10.2344/anpr-68-01-04. PMID: 34185859Free PMC Article
Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management.
Pinna R, Cocco F, Campus G, Conti G, Milia E, Sardella A, Cagetti MG
Periodontol 2000 2019 Jun;80(1):12-27. doi: 10.1111/prd.12261. PMID: 31090139
Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.
Casas-Alba D, Martínez-Monseny A, Pino-Ramírez RM, Alsina L, Castejón E, Navarro-Vilarrubí S, Pérez-Dueñas B, Serrano M, Palau F, García-Alix A
Hum Mutat 2018 Dec;39(12):1752-1763. Epub 2018 Sep 17 doi: 10.1002/humu.23638. PMID: 30176098

Recent clinical studies

Etiology

Periodontal health and gingival diseases and conditions on an intact and a reduced periodontium: Consensus report of workgroup 1 of the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions.
Chapple ILC, Mealey BL, Van Dyke TE, Bartold PM, Dommisch H, Eickholz P, Geisinger ML, Genco RJ, Glogauer M, Goldstein M, Griffin TJ, Holmstrup P, Johnson GK, Kapila Y, Lang NP, Meyle J, Murakami S, Plemons J, Romito GA, Shapira L, Tatakis DN, Teughels W, Trombelli L, Walter C, Wimmer G, Xenoudi P, Yoshie H
J Periodontol 2018 Jun;89 Suppl 1:S74-S84. doi: 10.1002/JPER.17-0719. PMID: 29926944
Periodontal health and gingival diseases and conditions on an intact and a reduced periodontium: Consensus report of workgroup 1 of the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions.
Chapple ILC, Mealey BL, Van Dyke TE, Bartold PM, Dommisch H, Eickholz P, Geisinger ML, Genco RJ, Glogauer M, Goldstein M, Griffin TJ, Holmstrup P, Johnson GK, Kapila Y, Lang NP, Meyle J, Murakami S, Plemons J, Romito GA, Shapira L, Tatakis DN, Teughels W, Trombelli L, Walter C, Wimmer G, Xenoudi P, Yoshie H
J Clin Periodontol 2018 Jun;45 Suppl 20:S68-S77. doi: 10.1111/jcpe.12940. PMID: 29926499
Modeling RASopathies with Genetically Modified Mouse Models.
Hernández-Porras I, Guerra C
Methods Mol Biol 2017;1487:379-408. doi: 10.1007/978-1-4939-6424-6_28. PMID: 27924582
Recent advances in RASopathies.
Aoki Y, Niihori T, Inoue S, Matsubara Y
J Hum Genet 2016 Jan;61(1):33-9. Epub 2015 Oct 8 doi: 10.1038/jhg.2015.114. PMID: 26446362
Infantile systemic hyalinosis.
Giri PP, Raushan R, Ghosh A, Pal P
Indian Pediatr 2012 Jan;49(1):62-4. PMID: 22318104

Diagnosis

Case report: A case of Culler-Jones syndrome caused by a novel mutation of GLI2 gene and literature review.
Zhang Y, Dong B, Xue Y, Wang Y, Yan J, Xu L
Front Endocrinol (Lausanne) 2023;14:1133492. Epub 2023 Mar 3 doi: 10.3389/fendo.2023.1133492. PMID: 36936162Free PMC Article
Periodontal health and gingival diseases and conditions on an intact and a reduced periodontium: Consensus report of workgroup 1 of the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions.
Chapple ILC, Mealey BL, Van Dyke TE, Bartold PM, Dommisch H, Eickholz P, Geisinger ML, Genco RJ, Glogauer M, Goldstein M, Griffin TJ, Holmstrup P, Johnson GK, Kapila Y, Lang NP, Meyle J, Murakami S, Plemons J, Romito GA, Shapira L, Tatakis DN, Teughels W, Trombelli L, Walter C, Wimmer G, Xenoudi P, Yoshie H
J Periodontol 2018 Jun;89 Suppl 1:S74-S84. doi: 10.1002/JPER.17-0719. PMID: 29926944
Periodontal health and gingival diseases and conditions on an intact and a reduced periodontium: Consensus report of workgroup 1 of the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions.
Chapple ILC, Mealey BL, Van Dyke TE, Bartold PM, Dommisch H, Eickholz P, Geisinger ML, Genco RJ, Glogauer M, Goldstein M, Griffin TJ, Holmstrup P, Johnson GK, Kapila Y, Lang NP, Meyle J, Murakami S, Plemons J, Romito GA, Shapira L, Tatakis DN, Teughels W, Trombelli L, Walter C, Wimmer G, Xenoudi P, Yoshie H
J Clin Periodontol 2018 Jun;45 Suppl 20:S68-S77. doi: 10.1111/jcpe.12940. PMID: 29926499
Syndromes with unusual dental findings or gingival components.
Fantasia JE
Atlas Oral Maxillofac Surg Clin North Am 2014 Sep;22(2):211-9. doi: 10.1016/j.cxom.2014.05.006. PMID: 25172002
Infantile systemic hyalinosis.
Giri PP, Raushan R, Ghosh A, Pal P
Indian Pediatr 2012 Jan;49(1):62-4. PMID: 22318104

Therapy

A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.
Elhossini RM, Sayed IM, Hellal US, Mahmoud SAM, Aglan MS, Hassib NF, Abdel-Hamid MS
Am J Med Genet A 2024 Jan;194(1):39-45. Epub 2023 Sep 26 doi: 10.1002/ajmg.a.63415. PMID: 37750049
An update on crown lengthening. Part 1: Gingival tissue excess.
Kalsi HJ, Hussain Z, Darbar U
Dent Update 2015 Mar;42(2):144-6, 149-50, 153. doi: 10.12968/denu.2015.42.2.144. PMID: 26058228
Gingival overgrowth in children: epidemiology, pathogenesis, and complications. A literature review.
Doufexi A, Mina M, Ioannidou E
J Periodontol 2005 Jan;76(1):3-10. doi: 10.1902/jop.2005.76.1.3. PMID: 15830631
Systematic drugs as a risk factor for periodontal disease initiation and progression.
Rees TD, Levine RA
Compendium 1995 Jan;16(1):20, 22, 26 passim; quiz 42. PMID: 7758039
Pseudomalignancies in dermatology.
Apisarnthanarax P, Mullins JF
J Med Assoc Thai 1975 Jan;58(1):24-35. PMID: 122999

Prognosis

Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.
Casas-Alba D, Martínez-Monseny A, Pino-Ramírez RM, Alsina L, Castejón E, Navarro-Vilarrubí S, Pérez-Dueñas B, Serrano M, Palau F, García-Alix A
Hum Mutat 2018 Dec;39(12):1752-1763. Epub 2018 Sep 17 doi: 10.1002/humu.23638. PMID: 30176098
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
Mégarbané A, Al-Ali R, Choucair N, Lek M, Wang E, Ladjimi M, Rose CM, Hobeika R, Macary Y, Temanni R, Jithesh PV, Chouchane A, Sastry KS, Thomas R, Tomei S, Liu W, Marincola FM, MacArthur D, Chouchane L
BMC Med Genet 2016 Jun 10;17(1):42. doi: 10.1186/s12881-016-0304-4. PMID: 27282200Free PMC Article
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
Kortüm F, Caputo V, Bauer CK, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici ML, Grammatico P, Korenke GC, Leuzzi V, Mowat D, Nair LD, Nguyen TT, Thierry P, White SM, Dallapiccola B, Pizzuti A, Campeau PM, Tartaglia M, Kutsche K
Nat Genet 2015 Jun;47(6):661-7. Epub 2015 Apr 27 doi: 10.1038/ng.3282. PMID: 25915598
Infantile systemic hyalinosis.
Giri PP, Raushan R, Ghosh A, Pal P
Indian Pediatr 2012 Jan;49(1):62-4. PMID: 22318104
Zimmermann-Laband syndrome with bilateral developmental cataract - a new association?
Shah N, Gupta YK, Ghose S
Int J Paediatr Dent 2004 Jan;14(1):78-85. doi: 10.1111/j.1365-263x.2004.00471.x. PMID: 14706033

Clinical prediction guides

Clinics and genetic background of hereditary gingival fibromatosis.
Strzelec K, Dziedzic A, Łazarz-Bartyzel K, Grabiec AM, Gutmajster E, Kaczmarzyk T, Plakwicz P, Gawron K
Orphanet J Rare Dis 2021 Nov 24;16(1):492. doi: 10.1186/s13023-021-02104-9. PMID: 34819125Free PMC Article
Genetic analysis of hereditary gingival fibromatosis using whole exome sequencing and bioinformatics.
Hwang J, Kim YL, Kang S, Kim S, Kim SO, Lee JH, Han DH
Oral Dis 2017 Jan;23(1):102-109. Epub 2016 Oct 10 doi: 10.1111/odi.12583. PMID: 27614106
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
Mégarbané A, Al-Ali R, Choucair N, Lek M, Wang E, Ladjimi M, Rose CM, Hobeika R, Macary Y, Temanni R, Jithesh PV, Chouchane A, Sastry KS, Thomas R, Tomei S, Liu W, Marincola FM, MacArthur D, Chouchane L
BMC Med Genet 2016 Jun 10;17(1):42. doi: 10.1186/s12881-016-0304-4. PMID: 27282200Free PMC Article
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
Kortüm F, Caputo V, Bauer CK, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici ML, Grammatico P, Korenke GC, Leuzzi V, Mowat D, Nair LD, Nguyen TT, Thierry P, White SM, Dallapiccola B, Pizzuti A, Campeau PM, Tartaglia M, Kutsche K
Nat Genet 2015 Jun;47(6):661-7. Epub 2015 Apr 27 doi: 10.1038/ng.3282. PMID: 25915598
Understanding SOS (Son of Sevenless).
Pierre S, Bats AS, Coumoul X
Biochem Pharmacol 2011 Nov 1;82(9):1049-56. Epub 2011 Jul 20 doi: 10.1016/j.bcp.2011.07.072. PMID: 21787760

Recent systematic reviews

Hereditary gingival fibromatosis in children: a systematic review of the literature.
Boutiou E, Ziogas IA, Giannis D, Doufexi AE
Clin Oral Investig 2021 Jun;25(6):3599-3607. Epub 2020 Nov 13 doi: 10.1007/s00784-020-03682-x. PMID: 33188467

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