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Fibromatosis, gingival, 5(GINGF5; HGF5)

MedGen UID:
1624392
Concept ID:
C4539942
Disease or Syndrome
Synonym: FIBROMATOSIS, GINGIVAL, HEREDITARY, 5
 
Gene (location): REST (4q12)
 
Monarch Initiative: MONDO:0033493
OMIM®: 617626

Definition

Gingival fibromatosis-5 (GINGF5) is an autosomal dominant benign overgrowth disorder characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues. Affected individuals may have diastema, malposition of the teeth, and prolonged retention of primary teeth. Onset is in the first decade. Treatment by surgical resection is generally followed by regrowth of the gingival tissues (summary by Pehlivan et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of hereditary gingival fibromatosis, see GINGF1 (135300). [from OMIM]

Clinical features

From HPO
Gingival fibromatosis
MedGen UID:
42017
Concept ID:
C0016049
Finding
The presence of fibrosis of the gingiva.
Abnormal sternum morphology
MedGen UID:
349830
Concept ID:
C1860493
Anatomical Abnormality
An anomaly of the sternum, also known as the breastbone.

Professional guidelines

PubMed

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
Angelopoulos AP
Dent J 1975 May;41(5):275-7, 283. PMID: 1055114

Recent clinical studies

Etiology

Bauer CK, Schneeberger PE, Kortüm F, Altmüller J, Santos-Simarro F, Baker L, Keller-Ramey J, White SM, Campeau PM, Gripp KW, Kutsche K
Am J Hum Genet 2019 Jun 6;104(6):1139-1157. Epub 2019 May 30 doi: 10.1016/j.ajhg.2019.04.012. PMID: 31155282Free PMC Article
Gawron K, Łazarz-Bartyzel K, Kowalska A, Bereta G, Nowakowska Z, Plakwicz P, Potempa J, Fertala A, Chomyszyn-Gajewska M
Connect Tissue Res 2019 Jan;60(1):29-39. Epub 2018 Sep 20 doi: 10.1080/03008207.2018.1517758. PMID: 30231645
Martelli-Júnior H, Santos Cde O, Bonan PR, Moura Pde F, Bitu CC, León JE, Coletta RD
Clinics (Sao Paulo) 2011;66(5):753-7. doi: 10.1590/s1807-59322011000500008. PMID: 21789376Free PMC Article
Duarte PM, Santos VR, Dos Santos FA, de Lima Pereira SA, Rodrigues DB, Napimoga MH
J Periodontol 2011 Mar;82(3):429-38. Epub 2010 Aug 23 doi: 10.1902/jop.2010.100215. PMID: 20731586
Wright HJ, Chapple IL, Matthews JB
J Oral Pathol Med 2001 May;30(5):281-9. doi: 10.1034/j.1600-0714.2001.300505.x. PMID: 11334464

Diagnosis

Aubert Mucca M, Patat O, Whalen S, Arnaud L, Barcia G, Buratti J, Cogné B, Doummar D, Karsenty C, Kenis S, Leguern E, Lesca G, Nava C, Nizon M, Piton A, Valence S, Villard L, Weckhuysen S, Keren B, Mignot C
J Med Genet 2022 May;59(5):505-510. Epub 2021 Apr 2 doi: 10.1136/jmedgenet-2020-107511. PMID: 33811134
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
Resende EP, Xavier MT, Matos S, Antunes AC, Silva HC
Spec Care Dentist 2020 May;40(3):320-328. Epub 2020 May 15 doi: 10.1111/scd.12458. PMID: 32413193
Ramnarayan BK, Sowmya K, Rema J
Pediatr Dent 2011 Sep-Oct;33(5):431-6. PMID: 22104713
Coletta RD, Graner E
J Periodontol 2006 May;77(5):753-64. doi: 10.1902/jop.2006.050379. PMID: 16671866

Therapy

Straka M, Danisovic L, Bzduch V, Polak S, Varga I
Neuro Endocrinol Lett 2016 Oct;37(5):353-360. PMID: 28171221
Bhowmick SK, Gidvani VK, Rettig KR
Endocr Pract 2001 Sep-Oct;7(5):383-7. doi: 10.4158/EP.7.5.383. PMID: 11585376
Wright HJ, Chapple IL, Matthews JB
J Oral Pathol Med 2001 May;30(5):281-9. doi: 10.1034/j.1600-0714.2001.300505.x. PMID: 11334464
Payne JB
Dent Teamwork 1992 Sep-Oct;5(5):22-4. PMID: 1291280
Cohen MM Sr
ASDC J Dent Child 1977 Sep-Oct;44(5):396-400. PMID: 332732

Prognosis

Ismail MM, Musa SA, Hassan SS, Abdullah MA
J Med Case Rep 2023 Jun 2;17(1):244. doi: 10.1186/s13256-023-03927-9. PMID: 37264371Free PMC Article
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
Rahvar M, Teng J, Kim J
Am J Dermatopathol 2016 May;38(5):e60-3. doi: 10.1097/DAD.0000000000000467. PMID: 26885603
Casavecchia P, Uzel MI, Kantarci A, Hasturk H, Dibart S, Hart TC, Trackman PC, Van Dyke TE
J Periodontol 2004 May;75(5):770-8. doi: 10.1902/jop.2004.75.5.770. PMID: 15212361
Bittencourt LP, Campos V, Moliterno LF, Ribeiro DP, Sampaio RK
Quintessence Int 2000 Jun;31(6):415-8. PMID: 11203959

Clinical prediction guides

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
Gawron K, Łazarz-Bartyzel K, Kowalska A, Bereta G, Nowakowska Z, Plakwicz P, Potempa J, Fertala A, Chomyszyn-Gajewska M
Connect Tissue Res 2019 Jan;60(1):29-39. Epub 2018 Sep 20 doi: 10.1080/03008207.2018.1517758. PMID: 30231645
Ramnarayan BK, Sowmya K, Rema J
Pediatr Dent 2011 Sep-Oct;33(5):431-6. PMID: 22104713
Martelli-Júnior H, Santos Cde O, Bonan PR, Moura Pde F, Bitu CC, León JE, Coletta RD
Clinics (Sao Paulo) 2011;66(5):753-7. doi: 10.1590/s1807-59322011000500008. PMID: 21789376Free PMC Article
Duarte PM, Santos VR, Dos Santos FA, de Lima Pereira SA, Rodrigues DB, Napimoga MH
J Periodontol 2011 Mar;82(3):429-38. Epub 2010 Aug 23 doi: 10.1902/jop.2010.100215. PMID: 20731586

Recent systematic reviews

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
Coletta RD, Graner E
J Periodontol 2006 May;77(5):753-64. doi: 10.1902/jop.2006.050379. PMID: 16671866

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