Literature DB >> 16470392

Familial expansile osteolysis--not exclusively an adult disorder.

Ivo Marik1, A Marikova, E Hyankova, K Kozlowski.   

Abstract

Familial expansile osteolysis (FEO, MIM174810) is a rare syndrome which was observed world-wide in only three kinships and in two unrelated American individuals. We report a patient with familial expansile osteolysis from the Czech Republic, not related to the previously reported cases. This patient's extraordinary clinical course does not conform to the ordinary. Her radiographic bone involvement was unusually extensive, involving most of the peripheral skeleton and the skull. This case documents that familial expansile osteolysis is not only a disease of adults but does occur in childhood.

Entities:  

Mesh:

Year:  2006        PMID: 16470392     DOI: 10.1007/s00256-005-0077-x

Source DB:  PubMed          Journal:  Skeletal Radiol        ISSN: 0364-2348            Impact factor:   2.199


  11 in total

Review 1.  Heritable disorders of the RANKL/OPG/RANK signaling pathway.

Authors:  Michael P Whyte; Steven Mumm
Journal:  J Musculoskelet Neuronal Interact       Date:  2004-09       Impact factor: 2.041

2.  Familial expansile osteolysis. A new dysplasia.

Authors:  P H Osterberg; R G Wallace; D A Adams; R S Crone; G R Dickson; J A Kanis; R A Mollan; N C Nevin; J Sloan; P G Toner
Journal:  J Bone Joint Surg Br       Date:  1988-03

3.  The radiographic features of familial expansile osteolysis.

Authors:  M D Crone; R G Wallace
Journal:  Skeletal Radiol       Date:  1990       Impact factor: 2.199

4.  Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.

Authors:  A E Hughes; S H Ralston; J Marken; C Bell; H MacPherson; R G Wallace; W van Hul; M P Whyte; K Nakatsuka; L Hovy; D M Anderson
Journal:  Nat Genet       Date:  2000-01       Impact factor: 38.330

5.  [Osteitis deformans (Paget)--or a tarda-type of a hereditary hyperphosphatasia (author's transl)].

Authors:  A Enderle; S von Gumppenberg
Journal:  Arch Orthop Trauma Surg       Date:  1979-07-31

6.  Familial hyperphosphatasemia with ateliosis and hypermetabolism of growing membranous bone; review of the clinical, radiographic and chemical features.

Authors:  J Caffey
Journal:  Bull Hosp Joint Dis       Date:  1972-10

7.  Expansile skeletal hyperphosphatasia: a new familial metabolic bone disease.

Authors:  M P Whyte; B G Mills; W R Reinus; M N Podgornik; G D Roodman; F H Gannon; M C Eddy; W H McAlister
Journal:  J Bone Miner Res       Date:  2000-12       Impact factor: 6.741

8.  Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene.

Authors:  Kiyoshi Nakatsuka; Yoshiki Nishizawa; Stuart H Ralston
Journal:  J Bone Miner Res       Date:  2003-08       Impact factor: 6.741

9.  Identification of a novel tandem duplication in exon 1 of the TNFRSF11A gene in two unrelated patients with familial expansile osteolysis.

Authors:  Teresa L Johnson-Pais; Frederick R Singer; Henry G Bone; Cynthia T McMurray; Marc F Hansen; Robin J Leach
Journal:  J Bone Miner Res       Date:  2003-02       Impact factor: 6.741

10.  Three novel mutations in SQSTM1 identified in familial Paget's disease of bone.

Authors:  Teresa L Johnson-Pais; Julie H Wisdom; Korri S Weldon; Jannine D Cody; Marc F Hansen; Frederick R Singer; Robin J Leach
Journal:  J Bone Miner Res       Date:  2003-10       Impact factor: 6.741

View more
  3 in total

1.  A kind of specific osteolytic destruction of the vertebral bodies.

Authors:  Baogan Peng; Jinhong Chen; Xiaodong Pang; Yan Hei
Journal:  BMJ Case Rep       Date:  2012-06-05

2.  Hyperphosphatasia with massive osteoectasia: a 45-year follow-up.

Authors:  E F McCarthy; G H Sack
Journal:  Skeletal Radiol       Date:  2006-08-17       Impact factor: 2.199

3.  Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation.

Authors:  Elahe Elahi; Yousef Shafaghati; Sareh Asadi; Farnaz Absalan; Hani Goodarzi; Nava Gharaii; Mohammad Hassan Karimi-Nejad; Farhad Shahram; Anne E Hughes
Journal:  J Bone Miner Metab       Date:  2007-04-20       Impact factor: 2.626

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.