ArticleSkeletal radiology2016
Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases.
Article in Skeletal radiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 3 of them syntheses that pooled it.
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Who cites it
14 citing papers in PubMed, 3 syntheses or guidelines pooled it, 29 citations in OpenAlex.
- Bone phenotype of patients with genetic forms of lipodystrophy: a systematic review of literature.The Journal of clinical endocrinology and metabolism · 2026Pooled it
- Clinical Spectrum ofCells · 2023Pooled it
- Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).Orphanet journal of rare diseases · 2022Guideline
- The Role of theInternational journal of molecular sciences · 2025Review
- Heterogeneity and high prevalence of bone manifestations, and bone mineral density in congenital generalized lipodystrophy subtypes 1 and 2.Frontiers in endocrinology · 2024Article
- Describing the natural history of clinical, biochemical and radiological outcomes of children with familial partial lipodystrophy type 2 (FPLD2) from the United Kingdom: A retrospective case series.Clinical endocrinology · 2022Article
- Looking for the skeleton in the closet-rare genetic diagnoses in patients with diabetes and skeletal manifestations.Acta diabetologica · 2022Article
- Bone Mineral Density in Congenital Generalized Lipodystrophy: The Role of Bone Marrow Tissue, Adipokines, and Insulin Resistance.International journal of environmental research and public health · 2021Review
- Article
- Molecular and Cellular Bases of Lipodystrophy Syndromes.Frontiers in endocrinology · 2021Review
- Misdiagnosis of Paget's Disease of Bone in a Congenital Generalized Lipodystrophy Patient: Case Report.Frontiers in endocrinology · 2021Article
- Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of NovelFrontiers in endocrinology · 2020Article
- Seipin-linked congenital generalized lipodystrophy type 2: a rare case with multiple lytic and pseudo-osteopoikilosis lesions.Acta radiologica open · 2019Article
- Unusual magnetic resonance imaging findings of cystic bone lesions in congenital generalized lipodystrophy.Journal of postgraduate medicineReview
Corrections and comments
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Authors and funding
12 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo describe the bone imaging features of lipodystrophies in the largest cohort ever published. MATERIALS AND
methodsWe 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.
resultsPatients 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.
conclusionsThe 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.
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