| • | AKA generalized elastolysis |
inheritance:
| • | autosomal recessive – most common |
| • | autosomal dominant – usually skin only |
| • | acquired – caused by acute drug reactions, often to penicillin, when lots of PMN’s enter the skin, release elastase and chew up elastin in the skin |
clinical:
| • | hound-dog facies, premature aged appearance, redundant skin folds: inelastic, lack recoil (vs. ED) |
| • | pulmonary emphysema, diverticulae of the GI tract, bladder diverticulae, diaphragmatic hernia |
| • | ddx: PXE, ED syndrome, granulomatous slack skin |
| • | labs: serum copper, ceruloplasmin levels |
| • | histology: decreased, fragmented elastic fibers |
| • | prognosis: mild to severe; reflects that several underlying genes probably cause similar phenotype |
| • | now known as occipital horn syndrome (skull X-ray shows little horns on occiput) |
| • | identical to type IX EDS |
| • | allelic to Menkes’ disease (same defect, different phenotype) |
| • | lysyl oxidase deficiency (?) due to mutation in the copper-binding ion transporting ATPase |
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