Lucie Louboutin1, Daniel Wascher2, Philippe Neyret2. 1. Centre Albert Trillat, Hôpital de la Croix Rousse, 69004, Lyon, France. lucie.louboutin@gmail.com. 2. Centre Albert Trillat, Hôpital de la Croix Rousse, 69004, Lyon, France.
Abstract
PURPOSE: Nail-patella syndrome (NPS) or hereditary onychoosteodysplasia is a rare autosomal dominant disease, characterized by a tetrad of findings, which include fingernail abnormalities, hypoplasia of the patellae, radial head dislocation and prominent iliac horns. Most of the literature on the treatment of patellar problems in NPS concerns paediatric patients, and there is no standard treatment algorithm for adult patients. METHODS: We reviewed the charts of skeletally mature patients with NPS who presented to our clinic. We reviewed the presenting complaints, the physical examination findings and the radiographic imaging. RESULTS: We identified seven skeletally mature patients with NPS who presented with patellofemoral complaints. Their symptoms were instability, pain, or a combination of the two. Examination and imaging revealed a wide range of severity but included patellar instability and patellar arthritis. In our series, milder forms of the disease were treated with non-operative measures, but the majority of our patients required surgery including medial patellofemoral ligament reconstruction, tibial tuberosity transposition, patellofemoral and total knee arthroplasty. At midterm follow-up, most patients had good results. CONCLUSION: Nail-patella syndrome has a wide range of presentations and severity in skeletally mature patients. Knee surgeons should be familiar with the spectrum of clinical presentation and the range of treatment options available in order to provide optimum treatment for patients with this disorder. LEVEL OF EVIDENCE: IV.
PURPOSE:Nail-patella syndrome (NPS) or hereditary onychoosteodysplasia is a rare autosomal dominant disease, characterized by a tetrad of findings, which include fingernail abnormalities, hypoplasia of the patellae, radial head dislocation and prominent iliac horns. Most of the literature on the treatment of patellar problems in NPS concerns paediatric patients, and there is no standard treatment algorithm for adult patients. METHODS: We reviewed the charts of skeletally mature patients with NPS who presented to our clinic. We reviewed the presenting complaints, the physical examination findings and the radiographic imaging. RESULTS: We identified seven skeletally mature patients with NPS who presented with patellofemoral complaints. Their symptoms were instability, pain, or a combination of the two. Examination and imaging revealed a wide range of severity but included patellar instability and patellar arthritis. In our series, milder forms of the disease were treated with non-operative measures, but the majority of our patients required surgery including medial patellofemoral ligament reconstruction, tibial tuberosity transposition, patellofemoral and total knee arthroplasty. At midterm follow-up, most patients had good results. CONCLUSION:Nail-patella syndrome has a wide range of presentations and severity in skeletally mature patients. Knee surgeons should be familiar with the spectrum of clinical presentation and the range of treatment options available in order to provide optimum treatment for patients with this disorder. LEVEL OF EVIDENCE: IV.
Authors: I McIntosh; S D Dreyer; M V Clough; J A Dunston; W Eyaid; C M Roig; T Montgomery; S Ala-Mello; I Kaitila; A Winterpacht; B Zabel; M Frydman; W G Cole; C A Francomano; B Lee Journal: Am J Hum Genet Date: 1998-12 Impact factor: 11.025