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group of connective tissue disorders characterized by:
| • | excessive stretchability and fragility of the skin |
| • | tendency toward easy scar formation |
| • | calcification of the skin to produce molluscoid pseudotumors |
| • | hyperextensibility of the joints |
three important types (all autosomal dominant):
CLASSIC Type (Gravis = EDS Type I; Mitis = EDS Type II)
| • | integument may be stretched out like a rubber band and snaps back with equal resiliency |
| • | minor trauma may produce a gaping “fish-mouth” wound; and leaves cigarette-paper-thin scars over shins, elbows, and knees |
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HYPERMOBILITY Type (EDS III)
| • | Indian rubber man in the circus |
| • | aka "benign hypermobile syndrome" |
| • | mnemonic - "three ring circus" |
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ARTERIAL-ECCHYMOTIC Type (EDS IV)
| • | defect in type III collagen production |
| • | extensive bruising, minimal joint laxity |
| • | do not want to miss type IV (potential for premature death): |
| • | a predisposition for vascular fragility or rupture (arterial, intestinal, or uterine) |
| • | aneurysm, dissection, rupture of large and medium-sized vessels |
| • | get baseline echo of aortic root at diagnosis and every year (if enlarging, refer to CV surgeon) |
| • | mnemonic - "forewarns of an early death" |
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ED type
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Inheritance
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Abnormality:
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Clinical Features:
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I
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AD
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type V collagen
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joint laxity; skin hyperextensibility
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II
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AD
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type V collagen
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same as EDS I but less severe
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III
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AD
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unknown
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hypermobility
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IV
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AD
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type III procollagen
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thin skin, bruising, ruptured blood vessels and
viscera
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Miscellaneous:
type IX EDS:
| • | now known as occipital horn syndrome |
| • | identical to X-linked cutis laxa |
| • | allelic to Menkes’ disease (same defect, different phenotype) |
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