Results 81 to 90 of about 165,775 (159)

Genetic Insights Into Hyaline Fibromatosis Syndrome: A Case Report of an ANTXR2 Mutation Featuring a Rare Variant c.697+1G>A

Clinical Case Reports, Volume 13, Issue 4, April 2025.
ABSTRACT Hyaline fibromatosis syndrome (HFS) is a rare genetic disorder encompassing juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH), caused by mutations in the anthrax toxin receptor 2 gene (ANTXR2). This condition leads to the accumulation of hyaline plaques in the skin and organs, resulting in symptoms such as skin ...
Shabnam Hajiani Ghotbabadi, Reza Shiari, Shayan Yousufzai, Simin Sharifi   +3 more
wiley   +1 more source

Exomic and transcriptomic alterations of hereditary gingival fibromatosis

Oral Diseases, 2019
AbstractObjectiveHereditary gingival fibromatosis (HGF) is a rare oral disease characterized by either localized or generalized gradual, benign, non‐hemorrhagic enlargement of gingivae. Although several genetic causes of HGF are known, the genetic etiology of HGF as a non‐syndromic and idiopathic entity remains uncertain.Subjects and methodsWe ...
Seong Kyu Han, Jungho Kong, Sanguk Kim, Jae‐Hoon Lee, Dong‐Hoo Han   +4 more
openaire   +3 more sources

Chymase Deficiency Drives Non-Syndromic Hereditary Gingival Fibromatosis

International Dental Journal
Aim or purpose: Hereditary gingival fibromatosis (HGF) is an inherited disease characterized by pathological gingival overgrowth, but the mechanisms underlying HGF remain largely elusive.
Xin Chen, Weicai Wang, Yangqiao Qing, Yang Cao, Chen Zhou, Yuqing Guo   +5 more
doaj   +1 more source

Gingival fibromatosis with hemi-osseous hyperplasia of jaws, focal maxillary viral papillomatosis of gingiva, fissured tongue and congenitally missing anterior teeth: A case report and surgical management of a new syndrome

Indian Journal of Dental Research, 2011
Gingival fibromatosis is characterized by fibrotic enlargement of the gingiva that can occur as inherited or sporadic form. Inherited form can be an isolated trait or as a component of a syndrome.
M Sesha Reddy, Ravikanth Manyam, M Narendera Babu, T R Saraswathi   +3 more
doaj   +1 more source

Syndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype–phenotype relationship in RASopathies

Clinical Genetics, Volume 106, Issue 2, Page 199-203, August 2024.
RASopathies, caused by variants in Ras/MAPK pathways, include newly associated MAP4K4 gene disorders. This study details a Korean boy with a de novo MAP4K4 variant, presenting craniofacial dysmorphism, developmental delays, and syndromic craniosynostosis, expanding the known phenotypic spectrum and underscoring MAP4K4's impact on cranial suture ...
Jihoon G. Yoon, Jung Woo Yu, Kyu Won Shim, Yong Oock Kim, Min Goo Lee   +4 more
wiley   +1 more source

Extensive Gingival Enlargement in Siblings : A case report

Sultan Qaboos University Medical Journal, 2012
Gingival fibromatosis is characterised by varying degrees of fibrotic gingival overgrowth that can be caused by a variety of aetiological factors. Hereditary gingival fibromatosis (HGF) is a rare genetic disorder, characterised by a slowly progressive ...
Kumar Pushpanshu, Rachna Kaushik, R. S. S athawane, Ravi P. Athawale   +3 more
doaj  

Report of hereditary gingival fibromatosis in two Nigerian siblings

, 2010
Background: Hereditary Gingival Fibromatosis (HGF) is a rare condition with a prevalence of 1:750,000, and can present as an isolated disorder or more rarely as a syndrome component.
OO Onigbinde, Fadeyibi, IO, IO Fadeyibi, OV Ogunbanjo, ME Sorunke, Sorunke, ME, Onigbinde, OO, Ogunbanjo, OV   +7 more
core   +1 more source

Effectiveness of novel oral hygiene instruction avoiding inattentional blindness using an application for unique plaque control record calculation: A randomized clinical trial

Journal of Periodontal Research, Volume 59, Issue 3, Page 458-467, June 2024.
Abstract Objective This study was performed to estimate the effectiveness of novel oral hygiene instruction (OHI) focusing on areas with deep periodontal pockets for reduction of periodontal inflammation. Background Data Discussing the Present Status of the Field Because stained areas on the plaque chart do not always correspond to the areas with deep ...
Akio Mitani, Takato Matsuura, Makoto Aino, Jun‐ichiro Hayashi, Eisaku Nishida, Miki Hori, Takeshi Kikuchi   +6 more
wiley   +1 more source

Ultrastructural aspects of connective tissue in hereditary gingival fibromatosis

, 2015
Objective. The purpose of this study was to analyze the ultrastructure of gingival connective tissue from patients in one family affected by hereditary gingival fibromatosis (HGF). Study design.
de Almeida, OP, Barros, SP, de Almeida, O P, Barros, S P, de Araújo, V C, Bozzo, L, Merzel, J, de Araujo, VC   +7 more
core   +1 more source

Familial occurence of hereditary gingival fibromatosis.

Japanese Journal of Oral & Maxillofacial Surgery, 1988
This paper reports a familial occurence of hereditary gingival fibromatosis with some reference to literature. A 15-year-old male visited our hospital for the purpose of gingivectomy. The surgical procedure was performed in the gingiva of frontal teeth area. Histopathological examination confirmed the diagnosis of gingival fibramatosis.
TSUJI, Tatsuo, UENO, Yasuyuki, HIROZANE, Atsuo, MATSUMURA, Kouji, SUZUKI, Michihiko, HIRAYAMA, Jouji, SASAKI, Kohsuke, SHINOZAKI, Fumihiko   +7 more
openaire   +2 more sources