Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations
Schematic representation of extra-articular manifestations of Ehlers-Danlos syndrome, hypermobility type (alternatively termed joint hypermobility syndrome). The dark grey circle symbolizes the phenotypic spectrum of this condition, which includes a series of functional somatic syndromes and tissue/organ-specific dysfunctions (i.e., the white triangles, whose tips are indeed comprised within the dark circle). Outside the clinical spectrum of Ehlers-Danlos syndrome, hypermobility type, the single phenotypic components may be observed in isolation or, perhaps, in incomplete associations within the general population (the larger and light grey circle). It is expected that, in the future, the study of heritable dysfunctions of the connective tissue will move from the dark gray circle to the light gray one, as a prominent field of interest. 1Mostly including fibromyalgia, myofascial pain and complex regional pain syndromes. 2Comprising xerophthalmia, xerostomia, vaginal dryness, and abnormal sweating. 3Asthma, atopy, gluten sensitivity, inflammatory bowel disease, and recurrent cystitis are all possible manifestations of an underlying immune system dysregulation.
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