Reassessment of oral frenula in Ehlers–Danlos syndrome: A study of 32 patients with the hypermobility type

Celletti, Claudia; Castori, Marco; Torre, Giuseppe La; Grammatico, Paola; Morico, Gianfranco; Camerota, Filippo

doi:10.1002/ajmg.a.34330

Cited by 12 publications

(9 citation statements)

References 14 publications

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“…In vascular EDS, sensitivity was 65% with 97% specificity with an odds ratio of 72. Celletti et al [] evaluated 32 patients with clinically characterized hEDS. Using a variation of assessment, the investigators did not find complete absence of the lower labial frenulum in any subject.…”

Section: Oral Soft Tissue Manifestationsmentioning

confidence: 99%

Oral and mandibular manifestations in the Ehlers–Danlos syndromes

Mitakides¹,

Tinkle²

2017

American J of Med Genetics Pt C

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The Ehlers-Danlos syndromes (EDS) are hereditary disorders that affect the connective tissue and collagen structures in the body. Several types of EDS have been identified. Oral and mandibular structures, which include oral soft tissue, dentition, facial and head pain, and the functioning of the temporomandibular joint (TMJ), are variably affected in the various types of EDS. These various manifestations of EDS have been noted for many years, but newer diagnostic techniques and studies are shedding additional light on the challenges faced by EDS patients in the area of oral and mandibular disorders. Further, the impact of temporomandibular disorder (TMD) on musculoskeletal dysfunction and vice versa, make this an important feature to recognize. Oral and mandibular hypermobility of the TMJ with associated consequences of EDS are noted. These features, diagnostic parameters and treatment procedures are presented.

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Section: Oral Soft Tissue Manifestationsmentioning

confidence: 99%

Oral and mandibular manifestations in the Ehlers–Danlos syndromes

Mitakides¹,

Tinkle²

2017

American J of Med Genetics Pt C

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“…More recently, a functional origin for the apparent agenesis/absence of the lingual frenulum in JHS/EDS-HT has been emphasized. In fact, this feature is likely the results of multiple contributors, such as primitive (developmental) hypoplasia of the frenulum and uncoordinated tongue movements due to concomitant orofacial dyspraxia [73]. Although still unsupported by evidence-based investigations, oropharyngeal dysphagia seems common in JHS/EDS-HT and, in rare instances, may impede feeding with consequent excessive weight loss, exacerbation of fatigue, and, in children, failure to thrive.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations

Castori¹

2012

ISRN Dermatology

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176

239

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Ehlers-Danlos syndrome, hypermobility type, constituting a phenotypic continuum with or, perhaps, corresponding to the joint hypermobility syndrome (JHS/EDS-HT), is likely the most common, though the least recognized, heritable connective tissue disorder. Known for decades as a hereditary condition with predominant rheumatologic manifestations, it is now emerging as a multisystemic disorder with widespread manifestations. Nevertheless, the practitioners' awareness of this condition is generally poor and most patients await years or, perhaps, decades before reaching the correct diagnosis. Among the various sites of disease manifestations, skin and mucosae represent a neglected organ where the dermatologist can easily spot diagnostic clues, which consistently integrate joint hypermobility and other orthopedic/neurologic manifestations at physical examination. In this paper, actual knowledge on JHS/EDS-HT is summarized in various sections. Particular attention has been posed on overlooked manifestations, including cutaneous, mucosal, and oropharyngeal features, and early diagnosis techniques, as a major point of interest for the practicing dermatologist. Actual research progresses on JH/EDS-HT envisage an unexpected link between heritable dysfunctions of the connective tissue and a wide range of functional somatic syndromes, most of them commonly diagnosed in the office of various specialists, comprising dermatologists.

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“…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).…”

Section: Discussionmentioning

confidence: 99%

“…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 .…”

Section: Prikaz Slučajamentioning

confidence: 99%