Gingival Hypertrophy in a Child with Hyaline Fibromatosis Syndrome

Abstract

Gingival Hypertrophy in a Child with Hyaline Fibromatosis Syndrome Gingivna hipertrofija u djeteta s hijalinim fibromatoznim sindromom Uvod Hijalini fibromatozni sindrom (HFS) iznimno je rijedak autosomno recesivni poremećaj koji se pojavljuje kod dojenčadi i djece. Karakterizira ga prekomjerno odlaganje amorfne hijaline tvari u mnogobrojnim tkivima i organima, osim moždanoga tkiva. HFS je uzrokovan mutacijom gena ANTXR2 (engl. Anthrax Toxin Receptor-2) smještenog na kromosomu 4q21 koji kodira transmembranski stanični receptor čija je zadaća sudjelovanje u jačanju i podržavanju vezivnoga tkiva reagirajući s ekstracelularnim matriksom (1). Taj transmembranski protein naziva se još i CMG2 (engl. Capillary Morphogenesis Protein Gene-2), a sastoji se od četiriju komponenti. Izvanstanični dio receptora čini von Willebrandov tip A domene (vWA) na koju se nastavlja domena slična imunoglobulinu, zatim transmembranska domena te naposljetku unutarstanični citoplazmatski rep (2). ANTXR2 dobio je naziv ACTA STOMATOLOGICA CROATICA www.ascro.hr

Juvenile Hyaline Fibromatosis: Literature Review and a Case Treated With Surgical Excision and Corticosteroid

“…Most genetic studies identified a mutation in the capillary morphogenesis factor-2 gene (CMG2), also known as ANTXR2 gene (Anthrax Toxin Receptor 2) located on chromosome 4q21. This gene codes for a transmembrane cell receptor that participates in strengthening and supporting connective tissue by reacting with the extracellular matrix [ 5 , 15 , 16 ]. This mutation translates into the allelic disorders JHF and ISH [ 1 , 2 , 10 ].…”

“…Under light microscopy, there is a deposition of hyaline-like material in many tissues such as skin, skeletal muscle, gastrointestinal tract lymph nodes and other tissues with the exception of brain tissue, which explains the common finding of normal mental development [ 1 , 3 - 5 , 15 ]. Typical features on electron microscopy include a dilated rough endoplasmic reticulum and hypertrophic Golgi apparatus filled with fibrillar and granular material, commonly displacing the nucleus and rest of the cytoplasm [ 3 , 5 , 8 , 13 ].…”

“…Our patient had skin lesions in paired musculoskeletal sites like shoulders and hands, which is a common finding in this condition [ 17 - 19 ]. JHF usually affects certain anatomical locations like nose, ears and extremities [ 11 , 12 , 15 , 20 ]. The consistency of the subcutaneous nodules can vary from soft to hard, and sometimes associated with skin ulceration [ 7 ].…”

Assessment of Cytotoxic and Genotoxic Effect of Modern Dental Materials in vivo

“…Although the World Health Organization (WHO) and FDI, as an international dental organization, have a plan to reduce and gradually withdraw dental amalgam from use ( 18 ), the use of amalgam in dental medicine is still not completely prohibited ( 19 ). However, as all dental materials in the oral cavity are subject to mechanical, chemical, thermal, microbiological, enzymatic and other influences, their biocompatibility may change over time due to the release of ingredients from the material ( 20 - 22 ). After polymerization, composite fillings are never completely polymerized ( 23 ).…”

“…After polymerization, composite fillings are never completely polymerized ( 23 ). The cytotoxicity and genotoxicity of the composite mainly depends on the chemical composition of the organic component and is, most often, the result of the release of free, residual monomers of HEMA, TEGDMA, UDMA and Bis-GMA from the filling due to the action of the aforementioned factors ( 20 ). Free monomers can generate ROS compounds and reduce glutathione levels, which can promote oxidative stress.…”