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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.

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


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


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.


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.

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

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