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

Abstract

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.

The association between muscle strength and activity limitations in patients with the hypermobility type of Ehlers–Danlos syndrome: the impact of proprioception

“…Patients diagnosed with Ehlers-Danlos syndrome, are characterized by an altered structural integrity of connective tissue [1,2] resulting in frailty [3] and multi-systemic manifestations like orthostatic intolerance, [4] hyper-elastic skin, [5] organ dysfunction [6] and joint instability. [7] The phenotype of EDS-HT is heterogeneous, in which the severity of complaints varies from mild to severe.…”

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

“…Scars are commonly atrophic although do not look papyraceous. 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. Accordingly, some authors consider the family benign joint hypermobile syndrome as a mild form of EDS hypermobile type [12,15].…”

“…Irregular menses, metrorrhagias, severe dysmenorrhea, dyspareunia, vulvodynia and vaginal dryness are frequent in EDS women [12,[17][18][19]. Chronic pains represent the most common neurologic complaints [20].…”

Multimodal Chiropractic Care of Pain and Disability for a Patient Diagnosed With Benign Joint Hypermobility Syndrome: A Case Report

“…The close association between BJHS and EDS-HT causes many to view them as the same condition. 5,6 However, with the lack of readily available clinical testing, the association between BJHS and EDS-HT is not definitive. Benign joint hypermobility syndrome is considered to be more common in African, Asian and Middle Eastern populations and is also more common in females and younger individuals.…”