Missing inferior labial and lingual frenula in Ehlers-Danlos syndrome

Böhm, Stephanie; Martinez-Schramm, A.; Gille, Justus; Behrens, P.

doi:10.1016/s0140-6736(01)06684-3

Cited by 16 publications

(11 citation statements)

References 4 publications

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“…Subsequent reports offered contrasting results [69–72]. More recently, a functional origin for the apparent agenesis/absence of the lingual frenulum in JHS/EDS-HT has been emphasized.…”

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

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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“…Subsequent reports offered contrasting results [69–72]. More recently, a functional origin for the apparent agenesis/absence of the lingual frenulum in JHS/EDS-HT has been emphasized.…”

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

176

239

View full text Add to dashboard Cite

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“…EDS hypermobile type and fibromyalgia are possibly related [25,26] . Absence of the lingual and inferior labial frenula was pointed up in EDS hypermobile type [27,28] .…”

Section: Current Classification Of Eds Typesmentioning

confidence: 94%

Skin Ultrastructural Clues on the Impact of Ehlers-Danlos Syndrome in Women

Pi閞ard

2016

Journal of Dermatological Research

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Ehlers-Danlos syndrome is heterogeneous in its genetic origins, molecular defects, and ultrastructure of connective tissues (CT). It frequently represents underdiagnosed heritable conditions. The altered mechanical functions of the involved tissues lead to variable combinations of increased skin distensibility and elasticity, joint laxity and CT fragility. In addition, EDS women commonly suffer from some gynecologic and obstetric disorders. In most instances, the diagnosis is based on selected clinical criteria. Dermal ultrastructural changes show representative patterns suggesting some EDS types: the collagen and elastic fibres are altered in the dermis, ligaments, vessel walls and internal organs. Although EDS is presumed to be a rare condition, physicians should view the disease outside the limits of conventional medical practices. Women are at risk of adverse pregnancy outcomes and various menstrual abnormalities. A multidisciplinary approach is usually welcome.

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“…Striae distensae and pyezogenic papules are present in EDS classic and hypermobile types [6,12]. Absence of the lingual or inferior labial frenulum was recently reported in EDS hypermobile type [13,14]. Borderline EDS patients are diagnosed when minor signs and family history are present.…”

Section: Doimentioning

confidence: 99%

Gynecologic and obstetric impact of the ehlers-danlos syndrome : clues from scrutinizing dermal ultrastructural alterations

Hermanns‐Lê¹,

Pierard²,

Piérard-Franchimont³

et al. 2014

Gynecol

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Background: The Ehlers-Danlos syndrome (EDS) represents a heterogenous group of heritable connective tissue disorders chiefly characterized by joint laxity, increased skin distensibility and connective tissue fragility. Each EDS type corresponds to a multisystemic disorder with widespread implications. Physicians evoke the EDS diagnosis in presence of some typical cutaneous signs, such as atrophic scars and frequent hematomas. Methods: To revisit the transmission electron microscopy support from skin biopsies when screening EDS in gynecologyobstetrics. Results: EDS women commonly suffer from a series of gynecologic and obstetric disorders. Dermal ultrastructural changes are keynote features suggesting some EDS types. Conclusion: Gene mutations are mostly identified in the classic and vascular EDS types, but only in sporadic cases of the hypermobile EDS type which apparently represents the most frequent type. Dermal ultrastructural changes represent relevant diagnostic clues for the practitioner. Preconception counseling about possible complications is welcome. Management requires precise diagnosis of the EDS type.

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Missing inferior labial and lingual frenula in Ehlers-Danlos syndrome

Cited by 16 publications

References 4 publications

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

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

Skin Ultrastructural Clues on the Impact of Ehlers-Danlos Syndrome in Women

Gynecologic and obstetric impact of the ehlers-danlos syndrome : clues from scrutinizing dermal ultrastructural alterations

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