2006 - UZ Leuven

Objective: The objective of this study was to carry out mutationalanalysis of LMNA in a patient with a novel syndrome of arthropathy,tendinous calcinosis, and progeroid features.Design: The study design was a descriptive case report.Setting: The study was performed at a referral center.Patient: A 44-yr-old male of European descent with an autosomalrecessive arthropathy syndrome affecting predominantly the distalfemora and proximal tibia in the knee with tendinous calcifications wasstudied. He also had progeroid features, such as pinched nose andmicrognathia, cataract, alopecia, generalized lipodystrophy, andsclerodermatous skin.Main outcome measures: The main outcome measures weremutational analysis of lamin A/C (LMNA) and its processing enzyme,zinc metalloproteinase (ZMPSTE24), as candidate genes.Results: We found a homozygous nucleotide substitution, 1718C>T, inexon 11 of the LMNA gene, resulting in substitution of a wellconservedresidue serine at position 573 with leucine (S573L). Thismissense mutation only affects lamin A, not lamin C, because thealternative splicing site is located in exon 10. Immunofluorescencestaining of the nuclei from his skin fibroblasts showed occasionalmisshapen morphology.Conclusions: The S573L homozygous LMNA mutation is associatedwith a novel phenotype of arthropathy, tendinous calcifications, andprogeroid features distinct from the acroosteolysis previously reportedin patients with mandibuloacral dysplasia caused by LMNA orZMPSTE24 mutations. Thus, arthropathy with tendinous calcificationscan be added to the growing list of disorders associated with LMNAmutations.VAN GIFFEN N., DEGREEF I., DE SMET L.: Dupuytren’s disease:Outcome of the proximal interphalangeal joint in isolated fifth rayinvolvement. Acta Orthop. Belg., 2006; 72: 671-677.In this study of 38 patients, we assessed the clinical result followingsurgical treatment of Dupuytren’s disease with isolated fifth rayinvolvement, particularly with respect to the proximal interphalangealjoint. Three surgical techniques were used: limited fasciectomy,segmental fasciectomy and dermofasciectomy. At a mean follow-uptime of 53.6 months, there were no residual deformities norrecurrences in the metacarpophalangeal joint. At the proximalinterphalangeal joint, there was an overall improvement of 45° inmovement with a residual flexion deformity avering 30°. Therecurrence rate in this series was 39%. There was no significantdifference in residual deformity or recurrence rate between the varioussurgical techniques used.69