578 results match your criteria Nail-Patella Syndrome
Knee 2018 Nov 29. Epub 2018 Nov 29.
Houston Methodist Othopedics & Sports Medicine, Houston, TX, United States of America. Electronic address:
Nail-patella syndrome (NPS) or hereditary onycho-osteodyaplasia is a rare genetic condition involving a mutation in the LMX1B gene affecting nails, elbows, knees, and pelvis. Due to the regulatory functions of the gene in many developmental processes through the body, patients with NPS experience wide-ranging musculoskeletal problems including patellar instability, fingernail anomalies, iliac exostoses/horns, and elbow abnormalities. The patellar changes often involve aplasia, hypoplasia, and chronic dislocation. Read More
J Cutan Med Surg 2018 Oct 31:1203475418808761. Epub 2018 Oct 31.
1 Division of Dermatology, Department of Medicine, University of Ottawa and The Ottawa Hospital, Ottawa, ON, Canada.
There is a growing interest in the use of medical cannabis for a variety of dermatologic conditions. Despite the lack of evidence to validate the effectiveness and safety of marijuana, it is approved to treat a variety of dermatologic conditions in the United States. Furthermore, medical cannabis dispensaries have been making unsubstantiated claims about medical cannabis. Read More
Indian J Med Res 2018 06;147(6):619-620
Department of Orthopaedics, Pandit Bhagwat Dayal Sharma Postgraduate Institute of Medical Sciences, Rohtak 124 001, Haryana, India.
Isr Med Assoc J 2018 Aug;20(8):496-498
Institute of Medical Genetics, Meir Medical Center, Kfar Saba, Israel.
Background: Nail-patella syndrome (NPS) is characterized by changes in the nails, knees, and elbows, as well as the presence of iliac horns detected by X-ray of the pelvis. A higher occurrence of psychiatric disorders has also been suggested in NPS. Heterozygous mutations in the gene encoding the LIM-homeodomain transcription factor (LMX1B) are identified in most patients with typical clinical findings of NPS. Read More
Eur J Hum Genet 2018 Nov 4;26(11):1708-1712. Epub 2018 Jul 4.
Laboratory of Immunopathology and Molecular Biology of the Kidney, Department of Women's and Children's Health, University of Padova, Padua, Italy.
Nail Patella syndrome (NPS) is a rare autosomal dominant disease characterized by varying degrees of patella, nail, and elbows dysplasia and also ocular and renal congenital abnormalities. The renal involvement, ranging from hematuria and proteinuria to end-stage renal disease, is present in 22-60% of NPS cases. Heterozygous variants in LMX1B are known to be responsible of NPS and it has been hypothesized that the variable expressivity is due to the interaction of LMX1B with other developmental genes. Read More
Rev Chil Pediatr 2018 Feb;89(1):107-112
Unidad de Endocrinología Pediátrica, División de Pediatría, Pontificia Universidad Católica de Chile, Santiago, Chile.
Background: Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnor malities. The diagnosis is based on clinical and radiological findings and confirmed by the identification of a heterozygous pathogenic variant in the LMX1B gene. Management of these patients involves conti nuous follow-up and treatment ofthe orthopedical, ocular and renal problems that mayoccur. Read More
Circ Genom Precis Med 2018 Apr;11(4):e001933
Background: Previous studies describing genetics evaluation in spontaneous coronary artery dissection (SCAD) have been retrospective in nature or presented as single case reports. As part of a dedicated clinical program, we evaluated patients in cardiovascular genetics clinic to determine the role of genetically triggered vascular disease and genetic testing in SCAD.
Methods And Results: Patient data were entered prospectively into the Massachusetts General Hospital SCAD registry database from July 2013 to September 2017. Read More
Knee Surg Sports Traumatol Arthrosc 2018 Mar 28. Epub 2018 Mar 28.
Department of Human Genetics, RadboudUMC, Nijmegen, The Netherlands.
Cutis 2018 Feb;101(2):126-129
Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Florida, USA.
Nail-patella syndrome (NPS) is a rare autosomal-dominant disorder characterized by the classic triad of fingernail dysplasia, patellar absence/hypoplasia, and presence of iliac horns. We describe the various features of NPS, focusing on dermatologic and musculoskeletal findings. A 69-year-old man presented to the dermatology clinic for a routine skin cancer screening. Read More
Indian J Nephrol 2018 Jan-Feb;28(1):76-78
Department of Nephrology and Transplantation, Malabar Institute of Medical Sciences, Kozhikode, Kerala, India.
Nail-Patella syndrome (NPS) is an inherited disease with characteristic nail, limb, and renal anomalies. While almost all patients manifest classical skeletal and nail abnormalities, renal involvement is seen in only 40% of patients. Asymptomatic proteinuria is the most common renal presentation. Read More
Front Pediatr 2018 29;6:11. Epub 2018 Jan 29.
Faculty of Biology Medicine and Health, Wellcome Trust Centre for Cell-Matrix Research, Division of Cell Matrix Biology, School of Biological Sciences, University of Manchester, Manchester, United Kingdom.
The glomerular basement membrane (GBM) is a specialized structure with a significant role in maintaining the glomerular filtration barrier. This GBM is formed from the fusion of two basement membranes during development and its function in the filtration barrier is achieved by key extracellular matrix components including type IV collagen, laminins, nidogens, and heparan sulfate proteoglycans. The characteristics of specific matrix isoforms such as laminin-521 (α5β2γ1) and the α3α4α5 chain of type IV collagen are essential for the formation of a mature GBM and the restricted tissue distribution of these isoforms makes the GBM a unique structure. Read More
Clin Genet 2018 Jul 11;94(1):43-53. Epub 2018 Apr 11.
Univ. Lille, EA7364 RADEME, Lille, France.
The patella is a sesamoid bone, crucial for knee stability. When absent or hypoplastic, recurrent knee subluxations, patellofemoral dysfunction and early gonarthrosis may occur. Patella hypoplasia/agenesis may be isolated or observed in syndromic conditions, either as the main clinical feature (Nail-patella syndrome, small patella syndrome), as a clue feature which can help diagnosis assessment, or as a background feature that may be disregarded. Read More
J Dermatol Sci 2018 Apr 19;90(1):90-93. Epub 2017 Dec 19.
Department of Dermatology, Keio University School of Medicine, Tokyo, Japan. Electronic address:
Nail patella syndrome is a autosomal dominant disorder caused by a genetic alteration in LMX1B. We identified a novel heterozygous in-frame indel mutation of LMX1B in a family of Nail patella syndrome. Impaired transcriptional activity but not dominant negative effect of mutant LMX1B were revealed using a transcriptional reporter assay, indicating that the mutation caused nail patella syndrome in this family via haploinsufficiency of the transcriptional activity of LMX1B. Read More
Am J Kidney Dis 2018 Aug 12;72(2):296-301. Epub 2017 Dec 12.
Department of Pathology, University of Washington, Seattle, WA. Electronic address:
Variants in the LMX1B gene cause nail-patella syndrome, a rare autosomal dominant disorder characterized by dysplasia of nails, patella and elbow abnormalities, iliac "horns," and glaucoma. We describe an adult man with nephrotic syndrome and no systemic manifestations of nail-patella syndrome at the time of his initial kidney biopsy. His kidney biopsy was initially interpreted as a form of segmental sclerosis with unusual fibrillar deposits. Read More
Indian J Radiol Imaging 2017 Jul-Sep;27(3):329-331
Department of Paediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India.
The Nail Patella Syndrome (NPS) is an autosomal dominant connective tissue disorder affecting the nails, skeletal system, kidneys and eyes. Here, we report a case of NPS detected at 19 weeks of gestation. The movements of the elbow and knee joints were restricted and there was rotational deformity of the knee joints. Read More
J Cutan Med Surg 2018 Mar/Apr;22(2):194-199. Epub 2017 Oct 23.
2 Division of Dermatology, Department of Medicine, Queen's University, Kingston, ON, Canada.
Cannabis ( Cannabis sativa/indica), also known as marijuana, has been used for medicinal and recreational purposes for millennia. There has been a recent trend to legalize the use of cannabis, as illustrated by the recent legalization votes in numerous states in the United States and legislation in Canada to allow recreational cannabis use. With this increasing consumption of cannabis, dermatologists will see increased pressure to prescribe cannabis and will see the side effects of cannabis use with greater frequency. Read More
Am J Kidney Dis 2017 Oct;70(4):e19-e20
Department of Pathology, Microbiology and Immunology, Vanderbilt University, Nashville, TN. Electronic address:
Pflugers Arch 2017 Aug 5;469(7-8):927-936. Epub 2017 Jul 5.
Institute for Molecular and Cellular Anatomy, University of Regensburg, Universitätsstr. 31, 93053, Regensburg, Germany.
The pathognomonic symptoms of patients with nail-patella syndrome are their small or absent patellae and dysplastic or absent finger- and toenails. Many of the patients suffer from renal symptoms which also affect their prognosis. In 1998, mutations in the gene encoding the transcription factor LMX1B were identified as underlying this autosomal-dominant disease. Read More
Abdom Radiol (NY) 2017 Dec;42(12):2953-2954
Department of Radiology, Wake Forest Baptist Medical Center, Wake Forest University School of Medicine, Medical Center Blvd., Winston-Salem, NC, 27157, USA.
An Bras Dermatol 2017 Mar-Apr;92(2):273-274
Intensive Care Department of the Hospital Barra D'Or - Rio de Janeiro (RJ), Brazil.
The nail-patella syndrome involves a clinical tetrad of changes in the nails, knees, elbows and the presence of iliac horns. Nail changes are the most constant feature: absent, hypoplastic, or dystrophic. A pathognomonic finding is the presence of the triangular lunula. Read More
J Belg Soc Radiol 2017 Apr 26;101(1):23. Epub 2017 Apr 26.
UZ Brussel, BE.
Genet Med 2017 10 6;19(10):1179-1183. Epub 2017 Apr 6.
The Scripps Translational Science Institute, La Jolla, California, USA.
Purpose: Nail-Patella syndrome is a dominantly inherited genetic disorder characterized by abnormalities of the nails, knees, elbows, and pelvis. Nail abnormalities are the most constant feature of Nail-Patella syndrome. Pathogenic mutations in a single gene, LMX1B, a mesenchymal determinant of dorsal-ventral patterning, explain approximately 95% of Nail-Patella syndrome cases. Read More
BMC Nephrol 2017 03 23;18(1):100. Epub 2017 Mar 23.
Division of Nephrology, Department of Medicine, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kamigyo-ku, Kyoto, 602-8566, Japan.
Background: Nail-patella syndrome (NPS) is an autosomal dominant disorder caused by mutations in the LMX1B gene and is characterized by nail dysplasia, skeletal abnormalities, and nephropathy. We herein report a case of steroid-resistant nephrotic syndrome (SRNS) prior to overt orthopedic symptoms in a patient with NPS.
Case Presentation: A 24-year-old woman presented to our hospital with knee pain. Read More
J Pediatr Orthop 2017 Mar 21. Epub 2017 Mar 21.
Department of Pediatric Orthopaedics, Dana-Dwek Children's Hospital, Tel Aviv Medical Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Background: Congenital (fixed) dislocations and obligatory (habitual) patellar dislocations represent a complex clinical and surgical challenge. Numerous treatment options, offering different perspectives, and surgical solutions are reported in the literature.We implemented the surgical technique principles, originally described by Stanisavljevic, for congenital (fixed) and obligatory (habitual) patellar dislocations, with slight modifications. Read More
J Fr Ophtalmol 2017 Feb 20;40(2):e51-e53. Epub 2017 Jan 20.
Centre hospitalier national d'ophtalmologie des Quinze-Vingts, 28, rue de Charenton, 75012 Paris, France; Inserm CIC 503, centre d'investigation clinique, 28, rue de Charenton, 75012 Paris, France; Inserm U968, UPMC UMRS 968, CNRS UMR 7210, institut de la Vision, 17, rue Moreau, 75012 Paris, France.
Sci Rep 2017 01 6;7:39933. Epub 2017 Jan 6.
Duke Molecular Physiology Institute, Durham, NC, United States.
Mutations in the LIM homeobox transcription factor 1-beta (LMX1B) are a cause of nail patellar syndrome, a condition characterized by skeletal changes, glaucoma and focal segmental glomerulosclerosis. Recently, a missense mutation (R246Q) in LMX1B was reported as a cause of glomerular pathologies without extra-renal manifestations, otherwise known as nail patella-like renal disease (NPLRD). We have identified two additional NPLRD families with the R246Q mutation, though the mechanisms by which LMX1B causes a renal-specific phenotype is unknown. Read More
Pediatr Nephrol 2017 Oct 23;32(10):1845-1850. Epub 2016 Jul 23.
Department of Pediatric Nephrology, Tokyo Women's Medical University, Sinjuku-ku, Tokyo, Japan.
Nail-patella syndrome (NPS) is an autosomal-dominant disease caused by LMX1B mutations and is characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Renal involvement is the major determinant of the prognosis for NPS. Patients often present with varying degrees of proteinuria or hematuria, and can occasionally progress to chronic renal failure. Read More
Exp Ther Med 2016 Jun 23;11(6):2361-2364. Epub 2016 Mar 23.
Department of Bone and Joint Surgery, The First Hospital of Jilin University, Changchun, Jilin 130021, P.R. China.
Hereditary onycho-osteodysplasia, also known as nail-patella syndrome (NPS), is a rare genetic disorder that is primarily characterized by poorly developed nails and patella. Patients with NPS frequently suffer from patellar instability that requires surgical management. The present case report describes a 25-year-old man with NPS. Read More
SICOT J 2016 31;2:26. Epub 2016 May 31.
Department of Orthopaedic Surgery, Koenig-Ludwig-Haus, Julius-Maximilians-University Wuerzburg, Brettreichstr. 11, 97074 Wuerzburg, Germany.
Introduction: Nail-patella-syndrome (NPS) is a rare autosomal-dominant inherited disease with pathologies of nails, skeleton, kidneys, and eyes. Linkage to a mutated gene was found. It codes for the transcription-factor LMX1B. Read More
Kidney Int 2016 06;89(6):1406
Department of Pathology, Rush University Medical Center, Chicago, Illinois, USA.
J Eur Acad Dermatol Venereol 2016 Sep 25;30(9):1614-7. Epub 2016 Apr 25.
Department of Dermatology, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
Background: Nail-patella syndrome (NPS) is an inherited disease produced by mutations in the LMX1B gene. It is characterized by fingernail dysplasia, hypoplastic or absent patella, dysplasia of the elbows and iliac horns on X-ray. It is useful to know this syndrome since some patients develop nephropathy and eye abnormalities. Read More
Bone Joint J 2016 Apr;98-B(4):483-9
Radboud University Medical Center, Department of Radiology P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.
Aim: Nail patella syndrome (NPS) is a skeletal dysplasia with patellofemoral dysfunction as a key symptom. We present the first in-depth radiological evaluation of the knee in a large series of NPS patients and describe the typical malformations.
Patients And Methods: Conventional radiological examination of 95 skeletally mature patients with NPS was performed. Read More
Indian J Pathol Microbiol 2016 Jan-Mar;59(1):75-7
Department of Nephrology, Manipal Hospital, Bengaluru, Karnataka, India.
Collagen type III is a normal component of interstitium and blood vessels. Collagenofibrotic glomerulopathy (CG) and nail patella syndrome (NPS) are the diseases of abnormal type III collagen deposition. In spite of these curved frayed structures with a periodicity of 45-60 nm are deposited in subendothelium and mesangium in CG, they are found only in the basement membrane in NPS. Read More
Knee Surg Sports Traumatol Arthrosc 2017 Oct 12;25(10):3012-3016. Epub 2016 Feb 12.
Centre Albert Trillat, Hôpital de la Croix Rousse, 69004, Lyon, France.
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. Read More
J Pediatr 2016 Feb;169:43
Division of Pediatric Nephrology, James Whitcomb Riley Hospital for Children, Indianapolis, Indiana.
J Am Acad Dermatol 2016 Feb;74(2):231-44; quiz 245-6
Department of Dermatology, Baylor University Medical Center, Dallas, Texas. Electronic address:
There are a significant number of diseases and treatment considerations of considerable importance relating to the skin and renal systems. This emphasizes the need for dermatologists in practice or in clinical training to be aware of these associations. Part I of this 2-part continuing medical education article reviews the genetic syndromes with both renal and cutaneous involvement that are most important for the dermatologist to be able to identify, manage, and appropriately refer to nephrology colleagues. Read More
Hong Kong Med J 2015 Dec;21(6):573.e3-5
Clinical Genetic Service, Department of Health, Hong Kong.
Orthop Traumatol Surg Res 2015 Dec 17;101(8):959-62. Epub 2015 Nov 17.
Departments of Orthopaedic Surgery and Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Background: Patellofemoral instability and dysfunction are frequent symptoms in Nail patella syndrome (NPS). In this article, the first large series of NPS patients is presented in which these knee symptoms were assessed using validated outcome scores. Additionally, the need for surgical interventions, percentage of patients who received surgical treatment and patient reported outcomes are reported. Read More
Nephrology (Carlton) 2016 Sep;21(9):765-73
Division of Pediatrics, Department of Developmental and Urological-Reproductive Medicine, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Aim: Mutations of LMX1B cause nail-patella syndrome, a rare autosomal dominant disorder. Recently, LMX1B R246Q heterozygous mutations were recognised in nephropathy without extrarenal manifestation. The aim of this study was to clarify characteristics of nephropathy caused by R246Q mutation. Read More
Clin Kidney J 2015 Oct 7;8(5):543-7. Epub 2015 Aug 7.
Nephropath , Little Rock, AR , USA.
Background: Collagenofibrotic glomerulopathy is a rare renal disease of unknown etiology that is secondary to deposition of type III collagen within the glomerulus. Only rare case series exist in the literature.
Methods: Renal biopsies diagnosed with collagenofibrotic glomerulopathy were prospectively collected at the Center for Renal and Urological Pathology (AAK) (Chennai, Tamil Nadu, India) from 2012 to 2015. Read More
Proc (Bayl Univ Med Cent) 2015 Jul;28(3):334-6
Department of Diagnostic Radiology, Baylor University Medical Center at Dallas, Dallas, Texas.
Nail-patella syndrome is a rare disorder characterized classically by the tetrad of nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns. Iliac horns are considered pathognomonic, and the presence of hypoplastic or aplastic patellae in conjunction with nail abnormalities is a cardinal feature of diagnosis. Elbow dysplasia is present in most cases and can exhibit features typical of the syndrome. Read More
Br J Dermatol 2015 Dec 30;173(6):1559-61. Epub 2015 Oct 30.
Department of Specialized, Clinical and Experimental Medicine, Division of Dermatology, University of Bologna, Bologna, Italy.
J Cutan Med Surg 2015 Nov-Dec;19(6):595-9. Epub 2015 May 29.
Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arbia.
Background: Nail-patella syndrome (NPS) is an autosomal dominant disorder with a variable interfamilial and intrafamilial clinical expressivity and penetrance. It is caused by loss-of-function heterozygous mutation in the LIM-homeodomain transcription factor (LMX1B) located on chromosome 9q. The pleiotropic LMB1X gene, a member of the homeogene family, is involved in the development of glomerular basement membrane, dorsoventral limb structures, along with the nails and the anterior segment of the eye. Read More
Eur J Hum Genet 2016 Jan 22;24(1):44-50. Epub 2015 Apr 22.
Clinical Genetics Department, Guy's Hospital, London, UK.
Nail-Patella Syndrome (NPS) is a rare autosomal dominant condition comprising nail and skeletal anomalies. Skeletal features include dysplastic patellae and iliac horns, as well as scapula and elbow dysplasia. Nephropathy and glaucoma or intra-ocular hypertension can sometimes be present. Read More
J Nephrol 2015 Dec 10;28(6):679-89. Epub 2015 Apr 10.
Department of Medicine III, Division of Nephrology and Dialysis, Medical University Vienna, Vienna, Austria.
Introduction: Globotriaosylceramide (Gb3, CD77) represents a pivotal part of the cell membrane. Measuring the urinary Gb3 content can be used to screen patients with chronic kidney disease (CKD) for Fabry disease, a disorder caused by hampered Gb3 degradation. However, little is known about factors influencing urinary Gb3 excretion other than Fabry disease. Read More
Dermatol Clin 2015 Apr 14;33(2):197-205. Epub 2015 Feb 14.
Department of Dermatology and Cutaneous Surgery, Miller School of Medicine, University of Miami, Miami, 1600 Northwest 10th Avenue, FL 33136, USA. Electronic address:
This article reviews 6 nail disorders that, although easy to diagnose, are misdiagnosed frequently by dermatologists and general practitioners. Diagnostic clues are emphasized to familiarize readers with features that indicate the correct diagnosis. We focus on two common tumors (onychomatricoma and onychopapilloma), two rare genetic conditions that can be diagnosed owing to nail changes (Darier disease and nail patella syndrome), and two uncommon acquired disorders (the yellow nail syndrome and lichen striatus). Read More
J Drugs Dermatol 2015 Jan;14(1):85-6
Clin Kidney J 2015 Feb 5;8(1):113-9. Epub 2014 Dec 5.
Institute of Genetic Medicine , International Centre for Life, Newcastle University , Newcastle upon Tyne , UK.
End-stage renal disease (ESRD) presenting in a familial autosomal dominant pattern points to an underlying monogenic cause. Nail-patella syndrome (NPS) is an autosomal dominant disorder that may lead to ESRD caused by mutations in the transcription factor LMX1B. Renal-limited forms of this disease, termed nail-patella-like renal disease (NPLRD), and LMX1B nephropathy have recently been described. Read More
Int J Obstet Anesth 2015 Feb 30;24(1):69-73. Epub 2014 Jul 30.
Department of Anesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital, Boston, MA, USA.
Spontaneous coronary artery dissection is an uncommon cause of acute coronary syndrome, occurring predominantly in women during and immediately after pregnancy; it carries a mortality rate of greater than 50%. While the exact etiology is unknown, possible contributing factors include pregnancy-related hormonal, connective tissue and hemodynamic changes. We present a case of a 35-year-old multigravid woman with Nail-Patella syndrome who developed an acute myocardial infarction secondary to spontaneous coronary artery dissection during labor which was not diagnosed until after delivery. Read More
Ger Med Sci 2014 13;12:Doc16. Epub 2014 Nov 13.
Dept. of Medicine, College of Medicine, Taif University, Al-Hawiyah - Taif, Saudi Arabia.
Nail-patella syndrome (NPS) is a pleiotropic autosomal-dominant disorder due to mutations in the gene LMX1B. It has traditionally been characterized by a tetrad of dermatologic and musculoskeletal abnormalities. However, one of the most serious manifestations of NPS is kidney disease, which may be present in up to 40% of affected individuals. Read More