Oral Juvenile Hyaline Fibromatosis: A Rare Entity

Juvenilna hijalina fibomatoza iznimno je rijedak poremećaj kod dojenčadi i djece, a javlja se prema zakonima autosomno recesivnog nasljeđivanja. Izgleda poput multiple kožne ili subkutane tumorne tvorbe, sporo se razvija i češća je u području glave i vrata te gornjeg dijela trupa. Često je povezana s gingivnom hipertrofijom, teškom fleksularnom kontrakturom udova i koštanom lezijom. Nema mentalne retardacije. Histološki se te lezije sastoje od obilne eozinofilne osnovne tvari s neravnomjerno raspršenim fibroblastima. Ekscidirane lezije u ranim stadijima bogatije su stanicama. Točno podrijetlo eozine hijaline tvari nije poznato. Nedavno je pronađen defekt kromosoma 4q21 povezan s lokusom gena – 2 za kapilarnu morfogenezu. Diferencijalna dijagnoza za juvenilnu hijalinu fibromatozu uključuje i infantilnu sistemsku hijalinozu, za koju se zna da je alelna. Trenutačno nema široko prihvaćene učinkovite terapije ni za juvenilnu hijalinu fibromatozu ni za infantilnu sistemsku hijalinozu. Juvenilna hijalina fibromatoza i infantilna sistemska hijalinoza ponekad se teško razlikuju jer su vrlo slične. Mi izvještavamo o slučaju juvenilne hijaline fibromatoze kod 10-godišnje djevojčice s pretežno gingivalnom hiperplazijom.Juvenile hyaline fibromatosis is an exceedingly rare disorder of infants and children which appears to have autosomal recessive inheritance. It is characterized by multiple, slowly growing dermal or subcutaneous tumors, especially in the head and neck region and upper trunk, often associated with gingival hypertrophy, severe flexural limb contractures and bone lesions. There is no mental retardation. Histologically, these lesions are composed of copious eosinophilic, homogenous ground substance with unevenly dispersed fibroblasts. Lesions excised in early stages are more cellular. The precise nature of the eosinophilic hyaline material is not known. Recently, a defect on chromosome 4q21 associated with the locus of the capillary morphogenesis gene – 2, has been demonstrated. The differential diagnosis of juvenile hyaline fibromatosis includes infantile systemic hyalinosis, which is now known to be allelic. Currently, no widely accepted effective treatment exists for juvenile hyaline fibromatosis or infantile systemic hyalinosis. Infantile systemic hyalinosis and juvenile hyaline fibromatosis are sometimes difficult to separate since they show significant overlap. We report one such unusual case of juvenile hyaline fibromatosis in a 10 year old female presenting mainly with gingival hyperplasia

Activation of latent TGF-\beta 1 by low-power laser in vitro correlates with increased TGF-β1 levels in laser-enhanced oral wound healing

The term Laser "Photobiomodulation" was coined to encompass the pleiotropic effects of low-power lasers on biological processes. The purpose of this study was to investigate whether transforming growth factor (TGF)-\beta had a role in mediating the biological effects of low-power far-infrared laser irradiation. We assayed for in vitro activation using various biological forms of cell-secreted, recombinant, and serum latent TGF-\beta using the p3TP reporter and enzyme-linked immunosorbent assays. We demonstrate here that low-power lasers are capable of activating latent TGF-\beta1 and -\beta3 in vitro and, further, that it is capable of "priming" these complexes, making them more amenable to physiological activation present in the healing milieu. Using an in vivo oral tooth extraction-healing model, we observed an increased TGF-\beta1, but not \beta3, expression by immunohistochemistry immediately following laser irradiation while TGF-\beta3 expression was increased after 14 days, concomitant with an increased inflammatory infiltrate. All comparisons were performed between laser-irradiated wounds and nonirradiated wounds in each subject essentially using them as their own control (paired T-test p<0.05). Low-power laser irradiation is capable of activating the latent TGF-\beta1 complex in vitro and its expression pattern in vivo suggests that TGF-play a central role in mediating the accelerated healing response