title: [Progressive partial lipodystrophy; an external problem with internal anomalies].
abstract: Progressive partial lipodystrophy (PPL) was diagnosed in two girls aged 6 and 8 years. PPL is characterized by loss of subcutaneous fat, starting in the face and progressing to trunk and arms. Diagnosis is based upon the cachectic appearance and the normal growth parameters. It is a rare disease of unknown aetiology, usually beginning in childhood and more frequent in females. An association with diabetes mellitus, hypertriglyceridaemia and glomerulonephritis has been described. Follow-up should be focused on these and on psychological effects. No causal therapy is available. The facial appearance can be restored by injection of liquid silicones. Life expectancy does not appear to be affected.
authors.affiliation: Afd. Kindergeneeskunde: Medisch Centrum, locatie Noord, Leeuwarden.
authors.forename: C V
authors.initials: CV
authors.lastname: Hulzebos
authors.forename: W H
authors.initials: WH
authors.lastname: Bos
authors.forename: J W
authors.initials: JW
authors.lastname: Doddema
authors.forename: E
authors.initials: E
authors.lastname: van Pinxteren-Nagler
authors.forename: T W
authors.initials: TW
authors.lastname: de Vries
mesh_terms: D002648:Child; D002675:Child, Preschool; D003178:Complement C3 Nephritic Factor / Q000502:physiology; D003922:Diabetes Mellitus, Type 1 / Q000503:physiopathology; D005260:Female; D006801:Humans; D015228:Hypertriglyceridemia / Q000503:physiopathology; D008060:Lipodystrophy / Q000175:diagnosis* / Q000503:physiopathology
chemical_list: D003178:Complement C3 Nephritic Factor
vernacular_title: Progressieve partiële lipodystrofie; een uiterlijk probleem met inwendige afwijkingen.