Dysphonia—A rare early symptom of Ehlers–Danlos syndrome?

Rimmer, Joanne; Giddings, C.E.B.; Cavalli, Lesley; Hartley, Ben

doi:10.1016/j.ijporl.2008.09.018

Cited by 22 publications

(28 citation statements)

References 11 publications

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“…We think that this association is not coincidental, because dysphonia accords well with the hypothesis of generalized laxity of connective tissue and hypotonia observed in HT‐EDS. In line with this concept, there are four previously published patients with an unclassified EDS type and dysphonia [Rimmer et al, 2008; Richmon et al, 2009]. Additional observations are needed to investigate whether dysphonia is an HT‐EDS specific symptom or not.…”

Section: Discussionmentioning

confidence: 82%

Natural history and manifestations of the hypermobility type Ehlers–Danlos syndrome: A pilot study on 21 patients

Castori

Camerota

Celletti

et al. 2010

American J of Med Genetics Pt A

185

197

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Hypermobility type Ehlers-Danlos syndrome (HT-EDS) is a relatively frequent, although commonly misdiagnosed variant of Ehlers-Danlos syndrome, mainly characterized by marked joint instability and mild cutaneous involvement. Chronic pain, asthenia, and gastrointestinal and pelvic dysfunction are characteristic additional manifestations. We report on 21 HT-EDS patients selected from a group of 40 subjects with suspected mild hereditary connective tissue disorder. General, mucocutaneous, musculoskeletal, cardiovascular, neurologic, gastrointestinal, urogynecological, and ear-nose-throat abnormalities are investigated systematically and tabulated. Six distinct clinical presentations of HT-EDS are outlined, whose tabulation is a mnemonic for the practicing clinical geneticist in an attempt to diagnose this condition accurately. With detailed clinical records and phenotype comparison among patients of different ages, the natural history of the disorder is defined. Three phases (namely, hypermobility, pain, and stiffness) are delineated based on distinguishing manifestations. A constellation of additional, apparently uncommon abnormalities is also identified, including dolichocolon, dysphonia, and Arnold-Chiari type I malformation. Their further investigation may contribute to an understanding of the pathogenesis of the protean manifestations of HT-EDS, and a more effective approach to the evaluation and management of affected individuals.

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Section: Discussionmentioning

confidence: 82%

Natural history and manifestations of the hypermobility type Ehlers–Danlos syndrome: A pilot study on 21 patients

Castori

Camerota

Celletti

et al. 2010

American J of Med Genetics Pt A

185

197

View full text Add to dashboard Cite

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“…Both patients exhibited laryngeal pathology, which in the first was accompanied by laryngeal mucosal hypertrophy and in the second by cricoarytenoid fibrosis, implying widespread connective tissue hyperplasia. Furthermore, although not previously described in EDS VIII, rare laryngeal abnormalities have previously been described in other EDS subtypes …”

Section: Reportmentioning

confidence: 76%

Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness

George

Vandersteen²,

Nigar

et al. 2016

Clin Exp Dermatol

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Ehlers-Danlos syndrome (EDS) encompasses a genetically and clinically heterogeneous group of connective tissue disorders, characterized by joint hypermobility, skin hyperextensibility and tissue fragility. It is a rare condition, and inheritance is either autosomal dominant or recessive. Previously grouped into 11 different subtypes, with increasing knowledge of the underlying molecular defects, it was reclassified in 1997 into 6 major groups, with type VIII excluded from this classification. Type VIII EDS is a very rare subtype, characterized by severe, early-onset periodontitis, skin fragility and abnormal scarring. Voice abnormalities have occasionally been described in other forms of the condition, and may be due to defects in the collagen of the vocal ligament. We report two cases of patients with EDS type VIII and hoarseness.

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“…In this sense, impairments in speech, language, and/or hearing could evoke a communication disorder (Al-Dakroury, 2020). Anecdotal evidence from clinical cases suggests EDS as an underlying condition in children with atypical or severe dysphonia without identified cause, especially if resistant to voice therapy (Rimmer, Giddings, Cavalli, & Hartley, 2008). Richmon, Wang-Rodriguez, and Thekdi (2009) described two patients consulting Otolaryngology for dysphonia.…”

Section: Communication Disordersmentioning

confidence: 99%

Neurodevelopmental atypisms in the context of joint hypermobility, hypermobility spectrum disorders, and Ehlers–Danlos syndromes

Baeza-Velasco

2021

American J of Med Genetics Pt C

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Joint hypermobility (JHM), defined as an increased range of joint motion, is a frequent somatic trait in the general population but also the hallmark of many of the hereditary disorders of connective tissue. Ehlers-Danlos syndromes (EDS) belong to this group of diseases and are characterized by tissue fragility, skin abnormalities, and JHM. Between JHM and EDS, there are the so-called hypermobility spectrum disorders (HSD), which is an umbrella term referring to people with symptomatic JHM who do not fulfill criteria for a syndromic connective tissue disorder such as EDS.Among the variety of clinical correlates of JHM/HSD/EDS, neurodevelopmental atypisms are common although often not screened for and identified in the clinical setting. This article reviews the pertinent literature concerning neurodevelopmental conditions for which there is some evidence of an association with JHM/HSD/EDS. These include hyperactivity and attention deficit, learning, communication, and motor problems including tic disorders such as Tourette syndrome and autism spectrum disorders. Underlying mechanism hypotheses for such interconnections are also reviewed. The coexistence of connective tissue-altered conditions and neurodevelopmental atypisms increases disability in patients from an early age. Thus, increased awareness among clinicians and researchers is necessary to promote assessment, diagnosis, and develop management strategies to meet the specific needs of those affected.

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Dysphonia—A rare early symptom of Ehlers–Danlos syndrome?

Cited by 22 publications

References 11 publications

Natural history and manifestations of the hypermobility type Ehlers–Danlos syndrome: A pilot study on 21 patients

Natural history and manifestations of the hypermobility type Ehlers–Danlos syndrome: A pilot study on 21 patients

Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness

Neurodevelopmental atypisms in the context of joint hypermobility, hypermobility spectrum disorders, and Ehlers–Danlos syndromes

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