title: Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases.
abstract: OBJECTIVE
  To describe the bone imaging features of lipodystrophies in the largest cohort ever published.
  
  
  METHODS
  We retrospectively examined bone imaging data in 24 patients with lipodystrophic syndromes. Twenty-two had genetic lipodystrophy: 12/22 familial partial lipodystrophy (FPLD) and 10/22 congenital generalized lipodystrophy (CGL), 8 with AGPAT2-linked CGL1 and 2 with seipin-linked CGL2. Two patients had acquired generalized lipodystrophy (AGL) in a context of non-specific autoimmune disorders. Skeletal radiographs were available for all patients, with radiographic follow-up for two. Four patients with CGL1 underwent MRI, and two of them also underwent CT.
  
  
  RESULTS
  Patients with FPLD showed non-specific degenerative radiographic abnormalities. Conversely, CGL patients showed three types of specific radiographic alterations: diffuse osteosclerosis (in 7 patients, 6 with CGL1 and 1 with CGL2), well-defined osteolytic lesions sparing the axial skeleton (7 CGL1 and 1 CGL2), and pseudo-osteopoikilosis (4 CGL1). Pseudo-osteopoikilosis was the sole bone abnormality observed in one of the two patients with AGL. Osteolytic lesions showed homogeneous low signal intensity (SI) on T1-weighted and high SI on T2-weighted MR images. Most of them were asymptomatic, although one osteolytic lesion resulted in a spontaneous knee fracture and secondary osteoarthritis in a patient with CGL1. MRI also showed diffuse fatty bone marrow alterations in patients with CGL1, with intermediate T1 and high T2 SI, notably in radiographically normal areas.
  
  
  CONCLUSIONS
  The three types of peculiar imaging bone abnormalities observed in generalized lipodystrophic syndromes (diffuse osteosclerosis, lytic lesions and/or pseudo-osteopoikilosis) may help clinicians with an early diagnosis in pauci-symptomatic patients.
authors.affiliation: Rheumatology Department, Université Paris 06, DHU i2B, AP-HP, Saint-Antoine Hospital, 184, rue du Faubourg Saint-Antoine, 75012, Paris, France.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Teboul-Coré
authors.affiliation: Rheumatology Department, Université Paris 06, DHU i2B, AP-HP, Saint-Antoine Hospital, 184, rue du Faubourg Saint-Antoine, 75012, Paris, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Rey-Jouvin
authors.affiliation: Radiology Department, AP-HP, Saint-Antoine Hospital, Paris, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Miquel
authors.affiliation: Endocrinology Department, Université Paris 06, DHU i2B, AP-HP, Saint-Antoine Hospital, Paris, France.|Inserm UMRS_938, Centre de Recherche Saint-Antoine, Paris, France.|Sorbonne Universités, UPMC Université Paris 06, UMRS_938, Paris, France.|ICAN, Institute of Cardiometabolism and Nutrition, Paris, France.
authors.forename: Camille
authors.initials: C
authors.lastname: Vatier
authors.affiliation: Inserm UMRS_938, Centre de Recherche Saint-Antoine, Paris, France.|Sorbonne Universités, UPMC Université Paris 06, UMRS_938, Paris, France.|ICAN, Institute of Cardiometabolism and Nutrition, Paris, France.
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Capeau
authors.affiliation: Department of Diabetes in Children and Adolescents, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Jean-Jacques
authors.initials: JJ
authors.lastname: Robert
authors.affiliation: Rheumatology Department, APHM, Sainte-Marguerite Hospital, Service de Rhumatologie, Aix-Marseille Université, Marseille, France.
authors.forename: Thao
authors.initials: T
authors.lastname: Pham
authors.affiliation: Inserm UMRS_938, Centre de Recherche Saint-Antoine, Paris, France.|Sorbonne Universités, UPMC Université Paris 06, UMRS_938, Paris, France.|ICAN, Institute of Cardiometabolism and Nutrition, Paris, France.|Molecular Biology and Genetics Department, AP-HP, Saint-Antoine Hospital, Paris, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Lascols
authors.affiliation: Rheumatology Department, Université Paris 06, DHU i2B, AP-HP, Saint-Antoine Hospital, 184, rue du Faubourg Saint-Antoine, 75012, Paris, France.|Inserm UMRS_938, Centre de Recherche Saint-Antoine, Paris, France.|Sorbonne Universités, UPMC Université Paris 06, UMRS_938, Paris, France.
authors.forename: Francis
authors.initials: F
authors.lastname: Berenbaum
authors.affiliation: Radiology Department, AP-HP, Lariboisière Hospital and Université Paris-Diderot, Paris, France.
authors.forename: Jean-Denis
authors.initials: JD
authors.lastname: Laredo
authors.affiliation: Endocrinology Department, Université Paris 06, DHU i2B, AP-HP, Saint-Antoine Hospital, Paris, France.|Inserm UMRS_938, Centre de Recherche Saint-Antoine, Paris, France.|Sorbonne Universités, UPMC Université Paris 06, UMRS_938, Paris, France.|ICAN, Institute of Cardiometabolism and Nutrition, Paris, France.|Molecular Biology and Genetics Department, AP-HP, Saint-Antoine Hospital, Paris, France.
authors.forename: Corinne
authors.initials: C
authors.lastname: Vigouroux
authors.affiliation: Rheumatology Department, Université Paris 06, DHU i2B, AP-HP, Saint-Antoine Hospital, 184, rue du Faubourg Saint-Antoine, 75012, Paris, France. jeremie.sellam@aphp.fr.|Inserm UMRS_938, Centre de Recherche Saint-Antoine, Paris, France. jeremie.sellam@aphp.fr.|Sorbonne Universités, UPMC Université Paris 06, UMRS_938, Paris, France. jeremie.sellam@aphp.fr.
authors.forename: Jérémie
authors.initials: J
authors.lastname: Sellam
mesh_terms: D000217:Acyltransferases / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D002648:Child; D002675:Child, Preschool; D006063:Chorionic Gonadotropin; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D052497:Lipodystrophy, Congenital Generalized / Q000000981:diagnostic imaging* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010026:Osteosclerosis / Q000000981:diagnostic imaging* / Q000235:genetics*; D013577:Syndrome; D055815:Young Adult
chemical_list: D006063:Chorionic Gonadotropin; D000217:Acyltransferases; C018764:2-acylglycerophosphate acyltransferase
keywords: Bone marrow fat replacement; Lipodystrophic syndrome; Lytic lesion; Osteosclerosis; Pseudo-osteopoikilosis