EHLERS DANLOS SYNDROME TYPE 3 SKIN

Note that, except for skin hyperextensibility, such cutaneous changes are not observed in the hypermobility type. Multiple ecchymoses with hemosiderotic depositions (f). Papyraceous (a), hemosiderotic and atrophic (b), and depressed (c) scars. Typical cutaneous features of Ehlers-Danlos syndrome(s). Nevertheless, EDS-HT is now considered the commonest EDS variant with an unexpectedly high disability potential. Among them, EDS-HT is the most difficult to recognize due to the lack of clinical diagnostic handles and confirmatory laboratory/molecular tests. After many years of nosologic confusion, a group of experts, who met in Villefranche in 1997, identified six major EDS subtypes, namely, classic, hypermobility (i.e., Ehlers-Danlos syndrome, hypermobility type-EDS-HT), vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis, recognized by specific diagnostic criteria.

Over the decades, EDS emerged as a clinically and genetically heterogeneous group of disorders, including an increasing number of variants (Table 1) which share the variable combination of dermal fragility, internal organ and vessel ruptures, and joint hypermobility (JHM). IntroductionĮhlers-Danlos syndrome (EDS) was first recognized in the first decade of the twentieth century as a hereditary disorder with typical skin manifestations (Figure 1). 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. 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. In this paper, actual knowledge on JHS/EDS-HT is summarized in various sections. 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. Nevertheless, the practitioners’ awareness of this condition is generally poor and most patients await years or, perhaps, decades before reaching the correct diagnosis. Known for decades as a hereditary condition with predominant rheumatologic manifestations, it is now emerging as a multisystemic disorder with widespread manifestations. 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.

Ehlers danlos syndrome type 3