Treatment responses in five patients with ribbing disease including two with 466C>T missense mutations in TGF?1 - 28/11/13
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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.
Le texte complet de cet article est disponible en PDF.Keywords : Ribbing disease, Camurati-Engelmann syndrome, Multiple diaphyseal sclerosis, Hyperostosis, Bisphosphonate, Glucocorticoids, TGF-beta-1, Treatment
Plan
Vol 80 - N° 6
P. 638-644 - décembre 2013 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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