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Joint Bone Spine
Volume 80, n° 6
pages 638-644 (décembre 2013)
Doi : 10.1016/j.jbspin.2013.01.007
accepted : 20 December 2012
Treatment responses in five patients with ribbing disease including two with 466C>T missense mutations in TGFβ1
 

Anne Savoie a, François Gouin b, Yves Maugars a, Bertrand Isidor c, Catherine Larrose d, Jean-Marie Berthelot a,
a Service de Rhumatologie, Hôtel-Dieu, CHU de Nantes, 44093 Nantes cedex 01, France 
b Service de Chirurgie Orthopédique et Traumatologique, Hôtel-Dieu, CHU de Nantes, 44093 Nantes cedex 01, France 
c Service de Génétique Médicale, Hôtel-Dieu, CHU de Nantes, Nantes, France 
d Centre de gestion des laboratoires, Hôtel-Dieu, CHU de Nantes, Nantes, France 

Corresponding author. Tel.: +33 2 40 08 48 22.
Abstract
Objective

To assess 5-year treatment responses and TGFB1 gene abnormalities in five patients with ribbing disease.

Methods

PCR analysis and bidirectional sequencing of TGFβ1 exons 1 through 7 were performed in all five patients.

Results

The five patients, four women and one man with a mean age of 34years at symptom onset, shared the following features: severe diaphyseal pain predominating in the lower limbs with diaphyseal hyperostosis; increased radionuclide uptake at sites of pain and, in some cases at other cortical sites; asymmetric or asynchronous lesions; long symptom duration (5–18years) despite a variety of treatments; and a delay of several years (2–15) between symptom onset and the diagnosis. Of our five patients, two had a heterozygous missense mutation in exon 2 of TGFβ1 (c.466C>T, p.Arg156Cys, previously described in Camurati-Engelmann syndrome) and three had commonly found TGFβ1 polymorphisms. Intravenous bisphosphonate therapy was used in all five patients but induced substantial improvements in a single patient. Of the three patients given bolus methylprednisolone therapy, two experienced a lasting response; the exception was one of the two women with a TGFβ1 mutation.

Conclusion

Considerable heterogeneity in the clinical presentations, genetic abnormalities, and treatment responses contribute to the diagnostic challenges raised by ribbing disease. Detailed genetic studies are needed.

The full text of this article is available in PDF format.

Keywords : Ribbing disease, Camurati-Engelmann syndrome, Multiple diaphyseal sclerosis, Hyperostosis, Bisphosphonate, Glucocorticoids, TGF-beta-1, Treatment




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