Absence of the inferior labial and lingual frenula in Ehlers-Danlos syndrome

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 .…”

“…Thus, the patients were not affected by EDS. Since the diagnosis of EDS is usually obtained through clinical findings 15 , in the absence of the characteristic signs of the disease and considering medical suggestion, it was decided not to perform a skin biopsy for diagnostic purposes.…”

“…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).…”