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"Knee-Ding" a Diagnosis: A Case of Nail Patella Syndrome.
Cureus
November 2023
Graduate Medical Education, Internal Medicine, Community Memorial Hospital, Ventura, USA.
Article Synopsis
- - Nail Patella Syndrome (NPS) is a rare genetic disorder characterized by specific symptoms like abnormal fingernails, iliac horns, and limb issues, particularly affecting the development of the kneecaps, leading to instability and dislocations.
- - A case study of a 54-year-old woman highlights her lifelong struggle with NPS, showing how early intervention could have prevented her knee surgery at age 18 due to childhood injuries.
- - The report stresses the importance of recognizing NPS symptoms early, including mood disorders and physical signs, to reduce the risk of knee problems and the potential need for surgical treatments later in life.
Total Knee Arthroplasty for Osteoarthritis in a Patient with Nail Patella Syndrome - A Case Report.
Int Med Case Rep J
December 2021
Orthopedic Department - Centro Hospitalar Universitário do Porto, Porto, Portugal.
Hereditary osteo-onychodysplasia (or nail patella syndrome) is a rare autosomal dominant disease defined by an association of severe characteristics, with a classic clinical tetrad of dysplasia of the fingernails, patellar hypoplasia or absence, presence of iliac horns, and deformities of the elbow, although renal, ocular and neurological involvement may also be present. The main orthopedic complaint of these patients is patellar instability associated with pain and functional limitation. Most of the literature regarding the treatment of NPS-related patellar problems, concerns pediatric population and there is no treatment algorithm defined for adult patients.
View Article and Find Full Text PDFElectron Microscopic and Immunohistochemical Findings of the Epidermal Basement Membrane in Two Families with Nail-patella Syndrome.
Acta Derm Venereol
November 2019
Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, 951-8510 Niigata, Japan.
Nail-patella syndrome is an autosomal dominant disorder characterized by nail dysplasia and skeletal anomaly. Some patients have been shown to have ultrastructural abnormalities of the glomerular basement membrane that result in nephrosis. However, little has been reported on the epidermal basement membrane in this condition.
View Article and Find Full Text PDFThe nail points to the diagnosis. Fong disease or hereditary osteo-onychodysplasia.
Hong Kong Med J
December 2015
Clinical Genetic Service, Department of Health, Hong Kong.
Quiz page December 2013: Hypoplastic nails, bowed elbows, and nephrotic syndrome. Nail-patella syndrome (hereditary osteo-onychodysplasia, Turner-Keiser syndrome, Fong disease).
Am J Kidney Dis
December 2013
Paediatric Nephrology Unit, Department of Paediatrics, Christian Medical College, Vellore, Tamilnadu, India. Electronic address:
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