A New Laryngeal Sign in a Patient with Ehler Danlos Syndrome

Many patients with Ehlers Danlos syndrome (EDS) complain of pharyngeal discomfort and various vocal problems, in all subtypes of the disease. Despite the high incidence of subjective pharyngeal and/or laryngeal symptoms within this EDS population, no clinical observation of anatomical or physiological abnormalities has ever been published in the English-language literature. We describe the first case ever published of laryngeal signs seen in an adult with EDS.

A 20-year-old Caucasian woman consulted as an emergency due to the sudden onset of aphonia. There were no predisposing factors such as vocal misuse or laryngeal trauma that could explain the cause of the aphonia.

The patient reported a recent diagnosis of hypermobility type (formerly type III) Ehlers Danlos syndrome (EDS). The diagnosis was based on the histologic examination of a skin biopsy specimen. The sole symptom that led to this EDS work-up was frequent temporomandibular joint dislocation.

After careful general clinical examination, indirect laryngoscopy using an ENF type V2 videoscope (Olympus Inc, Hamburg, Germany) was performed. Indirect laryngoscopy revealed rupture of the epithelium with ligament exposure and hemorrhagic infiltration of Reinke’s space of the right vocal fold (Fig 1). In addition, evidence of vascular enhancement obtained by narrow band imaging (NBI) illumination (Olympus Inc, Hamburg, Germany) showed multiple microvascular aneurysms within the laryngeal vestibule and the pharyngeal walls (Fig 2). Mobility of the larynx was normal.

Office-based right vocal fold biopsy was performed with the patient under local anesthesia using an ENF type VT videoscope and a swing-jaw biopsy forceps (Olympus Inc, Hamburg, Germany).

The biopsy encompassed a superficial area of the remaining epithelium together with subepithelial tissue and a few muscular fibers of the thyroarytenoid muscle. The vocal ligament was carefully preserved. Electron microscopy of the biopsy specimen confirmed the presence of abnormal collagen, similar to that observed in the skin biopsy performed previously. Conservative therapy (eight days total voice rest) led to complete voice recovery and normalization of the laryngeal appearance after five days.

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Figure 1 Indirect laryngoscopic view.

EDS consists of a heterogeneous cluster of connective tissue disorders characterized by the presence of faulty collagen. The incidence of the syndrome is one in 5000 births, affecting both sexes and all races. EDS is divided into six main categories, essentially based on symptoms and genetic features: hypermobile, classical, vascular, kyphoscoliosis, arthrochalasia, and dermatosparaxis.

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Figure 2 Indirect laryngoscopic view with NBI illumination.

The main symptoms of this syndrome consist of joint hypermobility, skin extensibility, and fragility of arterial and other tissues.1

Mild to moderate swallowing and voice problems are often reported by patients with EDS. Nevertheless, articles covering this topic in the English-language literature are rare. In 1998, Hunter et al conducted a survey among 411 patients with EDS (all subtypes) who were members of the British EDS support group.2 Eighty-nine of 327 people responding complained of dysphonia. This represents an incidence of 27 percent, compared with the 0.00028 percent incidence within the general population according to data provided in 1996 by the British Royal College of Speech and Language Therapists. The accuracy of these data is perhaps questionable, but Hunter’s assertion in his conclusion that this huge difference in incidence could be secondary to the underlying connective tissue abnormality remains plausible.

Very recently, the cases of two children with EDS presenting with hemi-laryngeal weakness and homolateral mucosal wave absence have been described.3 Until now, no laryngeal signs of histologically confirmed EDS in an adult have been reported in the literature.

Tissue and vascular fragility could well explain the observed appearances of the larynx in this case. Disseminated submucosal microaneurysms should be considered as a less likely underlying cause. Indeed, while hypermobility-type EDS patients are known to present with bruising tendencies, they are not known to present with arterial ruptures. Whether the disseminated laryngopharyngeal submucosal microaneurysms could be related to symptoms of dysphonia or dysphagia, or be a specific feature of hypermobile EDS, needs further study.

The rapid, spontaneous resolution of the laryngeal abnormalities described in our patient may explain the previously mentioned paradox between the high frequency of subjective symptoms compared to the rarity of objective laryngoscopic observation.

We present the first case of an adult patient with laryngeal signs of EDS confirmed by electron microscopic examination. This represents an important landmark in the understanding of the high incidence of dysphonia and/or dysphagia within the EDS patient population. Further studies should aim to investigate the relation between such symptoms and the presence of submucosal aneurysms clearly identifiable with NBI technology.

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