title: Barraquer-Simons syndrome: a unique patient's perspective on diagnosis, disease progression and recontouring treatment.
abstract: This case report describes a female patient diagnosed with Barraquer-Simons syndrome, a rare form of acquired partial lipodystrophy characterised by symmetrical loss of adipose tissue from face, neck, upper extremities and the trunk with onset in early childhood. Initial symptoms were seen at the age of 8 years. Our patient did not show signs of renal impairment and this may be associated with the syndrome. Treatment of lipoatrophy in these patients is limited to cosmetic restoration, and autologous fat grafting has shown sustained positive effects with no or very little loss of volume at follow-ups. Furthermore, the treatment has resulted in considerable improvements in her quality of life and daily functioning. She has not experienced any adverse effects. Accurate and early diagnosis is important, and clinicians should consider early intervention for these patients. Autologous fat grafting is recommended as a safe procedure.
authors.affiliation: Department of Plastic and Reconstructive Surgery, Odense University Hospital, Odense, Denmark.
authors.forename: Lene Nyhøj
authors.initials: LN
authors.lastname: Heidemann
authors.affiliation: Department of Plastic and Reconstructive Surgery, Odense University Hospital, Odense, Denmark.
authors.forename: Jørn Bo
authors.identifier: http://orcid.org/0000-0002-7368-6133
authors.initials: JB
authors.lastname: Thomsen
authors.affiliation: Department of Plastic and Reconstructive Surgery, Odense University Hospital, Odense, Denmark.
authors.forename: Jens Ahm
authors.initials: JA
authors.lastname: Sørensen
mesh_terms: D000203:Activities of Daily Living; D000273:Adipose Tissue / Q000601:surgery*; D000328:Adult; D018450:Disease Progression; D005260:Female; D006801:Humans; D008060:Lipodystrophy / Q000601:surgery*; D011788:Quality of Life; D013577:Syndrome; D016378:Tissue Transplantation / Q000379:methods*; D016896:Treatment Outcome