Literature DB >> 21785959

Coexistent tumor necrosis factor receptor-associated periodic fever syndrome and Ehlers-Danlos syndrome.

Qingping Yao, Lan Zhou, Kenneth J Tomecki.   

Abstract

A 32-year-old Caucasian woman had periodic fevers, skin disease, polyarthralgia and hypermobile joints that were consistent with tumor necrosis factor receptor-associated periodic fever syndrome confirmed with a finding of R92Q missense mutation of the TNFRSFA1 gene with Ehlers-Danlos hypermobility type syndrome. They are both autosomal dominant disorders, and their coexistence suggests that they could share some phenotypic features that may require special consideration in management. Conceivably, they could share common gene mutations although no such data are available.

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Year:  2011        PMID: 21785959     DOI: 10.1007/s00296-011-2015-7

Source DB:  PubMed          Journal:  Rheumatol Int        ISSN: 0172-8172            Impact factor:   2.631


  7 in total

1.  Clinical spectrum of familial Hibernian fever: a 14-year follow-up study of the index case and extended family.

Authors:  E M McDermott; D M Smillie; R J Powell
Journal:  Mayo Clin Proc       Date:  1997-09       Impact factor: 7.616

2.  Articular mobility in an African population.

Authors:  P Beighton; L Solomon; C L Soskolne
Journal:  Ann Rheum Dis       Date:  1973-09       Impact factor: 19.103

3.  Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene.

Authors:  N Ravet; S Rouaghe; C Dodé; J Bienvenu; J Stirnemann; P Lévy; M Delpech; G Grateau
Journal:  Ann Rheum Dis       Date:  2006-03-28       Impact factor: 19.103

Review 4.  Autoinflammatory diseases: an update of clinical and genetic aspects.

Authors:  Q Yao; D E Furst
Journal:  Rheumatology (Oxford)       Date:  2008-04-03       Impact factor: 7.580

Review 5.  Joint hypermobility syndrome pain.

Authors:  Rodney Grahame
Journal:  Curr Pain Headache Rep       Date:  2009-12

Review 6.  Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic joint diseases.

Authors:  Charles Masson; Virginie Simon; Emmanuel Hoppé; Paolo Insalaco; Idrissa Cissé; Maurice Audran
Journal:  Joint Bone Spine       Date:  2004-07       Impact factor: 4.929

7.  Tumor necrosis factor receptor-associated periodic syndrome characterized by a mutation affecting the cleavage site of the receptor: implications for pathogenesis.

Authors:  Martin A Kriegel; Ulrike Hüffmeier; Elisabeth Scherb; Christina Scheidig; Thomas Geiler; Joachim R Kalden; André Reis; Hanns-Martin Lorenz
Journal:  Arthritis Rheum       Date:  2003-08
  7 in total

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