A case of congenital cutis laxa (generalized elastolysis).
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.
Champion
Paul
P
Vancouver Hospital and Health Sciences Centre, UBC Respiratory Clinic, 2775 Heather Street, Vancouver, British Columbia V5Z 3J5, Canada. pchamp@interchange.ubc.ca
Ryan
Frank
F
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