Absence of Inferior Labial and Lingual Frenula in Ehlers-Danlos Syndrome

Abstract

The absence of the inferior labial frenulum or lingual frenulum is a specific sign of EDS that can be easily checked by a physician. It can be helpful in the early diagnosis of the disease, including the vascular type, in affected families. It can also be helpful to distinguish between joint hypermobility syndrome and the hypermobile type of EDS in patients with joint hypermobility.

Familial Hypoplastic Lingual Frenum: Case Report and Discussion of Differential Diagnosis

“…Istraživači su 1986. godine stvorili dijagram korištenjem rimskih brojeva i klasificirali sindrom u deset tipova, ovisno o kliničkim pokazateljima i genskom nasljeđu. Kako je ta podjela zbunjivala, revidirana je 1997. godine u VilleAmong the syndromes that present absence of lingual frenulum, there are: the Rapp-Hodgkin syndrome 9 , the Fraser syndrome 8 and the Ehlers-Danlos syndrome (3,(10)(11)(12)(13)(14)(15)(16)(17). The Rapp-Hodgkin syndrome is associated with ectodermic dysplasia, capillary alterations with tendency to alopecia and the presence of labial or palatine cleft (9).…”

“…EDS, a hereditary genetic disorder, consists of a group of alterations inherent of connective tissue that presents a defect in collagen metabolism, leading to fragility of the skin and blood vessels, hyperextensibility of the skin, and joint hypermobility (3,(10)(11)(12)(13)(14)(15)(16)(17). A few authors have described that the absence of LF is a potential indicator of EDS 9 .…”

“…It is believed that the diagnosis of EDS can be obtained early through the investigation of oral findings, such as the absence of the lingual frenulum, which can be easily observed during clinical examination performed by physicians or dentists (12,15). Making an early diagnosis of EDS is very important to the evolution of the clinical aspects of the patients, and also to enable the implementation of an appropriate therapy for each case.…”

“…It is believed that EDS can be diagnosed early considering specific oral findings, such as the absence of LF (15), which can be easily observed during clinical exams by dentists and physicians (12). However the scientific literature shows that there is no agreement about the association of EDS with the absence of LF (11,15,16,23).…”

“…Smatra se da se rana dijagnoza EDS-a može postaviti pregledom oralnih nalaza, poput nedostatka LF-a koji se može uočiti tijekom kliničkog pregleda liječnika ili stomatologa (12,15). Postavljanje rane dijagnoze EDS-a vrlo je važno za određivanje kliničkog stanja pacijenta i omogućuje pravodobnu primjenu odgovarajućih terapijskih postupaka.…”