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Acta Radiologica Open Dec 2019Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome (BSCL), is a part of lipodystrophic syndromes that constitute a heterogeneous group of genetic...
Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome (BSCL), is a part of lipodystrophic syndromes that constitute a heterogeneous group of genetic or acquired generalized or partial body fat loss disorders. It is a rare autosomal recessive disease characterized by a near-absence of adipose tissue from birth or early infancy and severe insulin resistance. CGL is classified as type 1-4, depending on the gene involved, and bone lytic lesion is found frequently in type 1 especially in long bones, but reported to be rare in type 2. Here we report an active lifestyle 25-year-old woman with type 2 CGL showing multiple bone lytic and pseudo-osteopoikilosis lesions in hands and feet. Radiograph bone survey showed no apparent abnormality in pelvic bone or axial skeletons. Bone marrow was completely absent and extra-skeletal general fat loss was also evident in whole-body magnetic resonance imaging sparing the orbital, axial, sole, and palmar regions. Radiographic bone survey is important even for type 2 CGL to find the change of bones to provide direction of preventing excessive overload or activity.
PubMed: 31853371
DOI: 10.1177/2058460119892407 -
Deutsches Arzteblatt International Sep 2019
Topics: Emergency Service, Hospital; Humans; Incidental Findings; Osteopoikilosis
PubMed: 31617484
DOI: 10.3238/arztebl.2019.0662 -
Postgraduate Medical Journal Dec 2019
Topics: Acetabulum; Adult; Calcinosis; Diagnosis, Differential; Femur Head; Humans; Male; Osteopoikilosis; Patient Care Management; Tomography, X-Ray Computed
PubMed: 31371461
DOI: 10.1136/postgradmedj-2019-136705 -
Rheumatology (Oxford, England) Nov 2019
Topics: Arthritis, Psoriatic; Diagnosis, Differential; Female; Humans; Middle Aged; Osteopoikilosis; Sacroiliitis
PubMed: 31323675
DOI: 10.1093/rheumatology/kez084 -
Calcified Tissue International Aug 2019Melorheostosis (MEL) is an uncommon, sclerosing disease, characterised by hyperostosis of long bones, resembling the flowing of candle wax. The disease is sporadic and...
Melorheostosis (MEL) is an uncommon, sclerosing disease, characterised by hyperostosis of long bones, resembling the flowing of candle wax. The disease is sporadic and the pathogenesis is still poorly understood. Occasionally, the same family can include individuals with MEL and Osteopoikilosis (OPK), a disease characterised by multiple round foci of increased bone density. LEMD3 gene mutations are related to OPK and Buschke-Ollendorff Syndrome, a genetic condition in which an association between MEL, OPK and skin lesions is observed. In rare cases, LEMD3 mutations and recently mosaic MAP2K1 gene mutations have been correlated to MEL suggesting that somatic mosaicism could be causative of the disease. In this study, we described the clinical, radiological and molecular findings of 19 individuals with MEL and 8 with OPK and compared the results to the medical literature. The molecular analyses of this case series corroborate the available data in the medical literature, indicating that LEMD3 germline mutations are not a major cause of isolated MEL and reporting five further cases of OPK caused by LEMD3 germline mutations.
Topics: Adolescent; Adult; Child; DNA-Binding Proteins; Female; Femur; Germ-Line Mutation; Humans; Italy; MAP Kinase Kinase 1; Male; Melorheostosis; Membrane Proteins; Middle Aged; Osteopoikilosis; Point Mutation; Young Adult
PubMed: 31129707
DOI: 10.1007/s00223-019-00565-6 -
Journal of Pediatric Hematology/oncology Apr 2020Osteopoikilosis (OPK) is a rare, benign, asymptomatic bone disease causing dense bone lesions, which could be interpreted as bone metastasis. The symmetric distribution,...
Osteopoikilosis (OPK) is a rare, benign, asymptomatic bone disease causing dense bone lesions, which could be interpreted as bone metastasis. The symmetric distribution, lack of bone destruction, and location differentiate OPK from metastatic disease. It is essential to be aware of this benign condition to prevent diagnostic errors. We present the case of a 10-year-old female patient with the concurrent diagnosis of secreting mixed germ cell tumor with Yolk Salk Tumor compound and OPK. Physical examination disclosed an abdominal mass, and blood tests showed increased alfa-fetoprotein and human chorionic gonadotropin levels. Computed tomography revealed a pelvic tumor associated with multiple radiodense lesions distributed throughout the bone skeleton. Lesions were inactive on scintigraphy and FDG-PET. Pathology of the bone showed normal bone tissue and ruled out metastasis. The patient achieved complete remission after chemotherapy and surgery and remains in continued complete remission 28 months from diagnosis. The genetic analysis confirmed the LEMD3 germline mutation confirming OPK.
Topics: Bone Neoplasms; Child; DNA-Binding Proteins; Diagnosis, Differential; Female; Germ-Line Mutation; Humans; Membrane Proteins; Neoplasm Metastasis; Neoplasms, Germ Cell and Embryonal; Osteopoikilosis; Ovarian Neoplasms
PubMed: 30951020
DOI: 10.1097/MPH.0000000000001457 -
Anales de Pediatria Nov 2019
Topics: Adolescent; Humans; Male; Osteopoikilosis; Tomography, X-Ray Computed
PubMed: 30389430
DOI: 10.1016/j.anpedi.2018.10.003