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Ehlers-Danlos syndrome has Varied Molecular Mechanisms

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source: Journal of Medical Genetics

year: 1997

authors: Pope FM, Burrows NP


Ehlers-Danlos syndrome (EDS) is a group of variable clinical entities which share a propensity to skin fragility, joint laxity, and ligamentous fragility or shortening. Tschernogobow,’ Ehlers,2 and Danlos3 independently described unusual bruising, excessive cutaneous extensibility, and molluscoid pseudotumours. The eponym of Ehlers-Danlos syndrome (EDS) was first suggested by Poumeau-Delille and Soulie. Spectacular early examples were retrospectively commented upon by Beighton. Morris’ described a notable British patient who Beighton re-examined more than 60 years later. The proband had classical EDS. Beighton not only showed impressive pictures of the so-called “Elastic Lady” but also included the original lithograph of a Spaniard with unilateral cutaneous hyperextensibility investigated in Leyden almost 300 years before, who was very probably a somatic mosaic. In Ehlers’s time there was considerable difficulty in distinguishing clearly between cutis hyperelastica (overextensible skin), dermatorrhexis (easy splitting of skin), and both localised and generalised dermatochalasis (pendulous or redundant skin). To this day the similarities of such physical signs still cause confusion. In practice the designations hyperelastic, pendulous, and lax skin often overlap and can even occur at different times in the same patient. For example, EDS skin is hyperelastic early in life but later becomes lax or drooping, especially in old age.

organization: Addenbrooke's NHS Trust

DOI: 10.1136/jmg.34.5.400

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