title: A case of congenital cutis laxa (generalized elastolysis).
abstract: Cutis laxa (generalized elastolysis) is characterized by sagging folds of loose skin on the face and trunk. Although grouped with hyperelastic skin conditions such as Ehlers-Danlos syndrome, cutis laxa shows an almost total lack of skin elasticity. Because it is a generalized state, it may present as an abnormality in the connective tissue of more than one organ system. The authors report a patient who had end-stage renal failure related to heavy chain disease, a recognized association of cutis laxa. Although the patient's vascular abnormalities were significant, she died of respiratory failure at 41 years of age from cutis laxa-induced emphysema.
authors.affiliation: Vancouver Hospital and Health Sciences Centre, UBC Respiratory Clinic, 2775 Heather Street, Vancouver, British Columbia V5Z 3J5, Canada. pchamp@interchange.ubc.ca
authors.forename: Paul
authors.initials: P
authors.lastname: Champion
authors.forename: Frank
authors.initials: F
authors.lastname: Ryan
mesh_terms: D000328:Adult; D003483:Cutis Laxa / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000628:therapy*; D004646:Emphysema / Q000209:etiology / Q000628:therapy; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000628:therapy; D012131:Respiratory Insufficiency / Q000209:etiology