617 results match your criteria Nail-Patella Syndrome

A novel LMX1B mutation: nail-patella syndrome manifesting with isolated nail disorders.

Int J Dermatol 2022 May 29. Epub 2022 May 29.

Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

View Article and Full-Text PDF

Nail-Patella Syndrome: Optical Coherence Tomography Angiography Findings.

Case Rep Ophthalmol 2022 Jan-Apr;13(1):227-233. Epub 2022 Mar 29.

Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

We describe a 51-year-old Hispanic female with nail-patella syndrome (NPS), a rare genetic disease with a wide range of systemic features such as nail dysplasia and finger abnormalities, elbow webbing, iliac horn, patellar subluxation, and proteinuria. Some patients additionally have a history of glaucoma and other ocular features such as thick central corneal thickness, Lester's sign, prominent iris processes, and optic nerve cupping. Our patient had a history of glaucoma suspicion, prominent iris processes, increased cup to disc ratios, tilted optic discs, and tigroid fundi. Read More

View Article and Full-Text PDF

Total Knee Arthroplasty for Osteoarthritis in a Patient with Nail Patella Syndrome - A Case Report.

Int Med Case Rep J 2021 29;14:871-876. Epub 2021 Dec 29.

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. Read More

View Article and Full-Text PDF
December 2021

Retrospective Diagnosis of Nail-patella Syndrome.

Indian J Nephrol 2021 Sep-Oct;31(5):485-487. Epub 2021 Feb 20.

Department of Nephrology, Institute of Renal Sciences, Global Hospital Parel-12, Mumbai, Maharashtra, India.

A 37 years old female presented with asymptomatic nephrotic range proteinuria due to focal segmental glomerulosclerosis (FSGS). She was treated with steroids and mycophenolate mofetil to which there was no response and progressed to advanced chronic kidney disease. When her brother who was being evaluated as a potential donor, for renal transplant, was found to have proteinuria and a genetic study for the steroid-resistant nephrotic syndrome was done. Read More

View Article and Full-Text PDF
February 2021

A case of nail-patella syndrome with osteochondral lesion of the lateral femoral condyle accompanied with anomalies of anterior horns of the menisci and lateral femoral condyle.

J Orthop Sci 2021 Oct 21. Epub 2021 Oct 21.

Division of Orthopaedic Surgery, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine, University of Miyazaki, 5200 Kihara, Kiyotake, Miyazaki, 889-1692, Japan.

View Article and Full-Text PDF
October 2021

Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.

Nat Commun 2021 09 20;12(1):5533. Epub 2021 Sep 20.

Department of Pathology and Human Anatomy, Loma Linda University School of Medicine, Loma Linda, CA, USA.

LMX1B haploinsufficiency causes Nail-patella syndrome (NPS; MIM 161200), characterized by nail dysplasia, absent/hypoplastic patellae, chronic kidney disease, and glaucoma. Accordingly in mice, Lmx1b has been shown to play crucial roles in the development of the limb, kidney and eye. Although one functional allele of Lmx1b appears adequate for development, Lmx1b null mice display ventral-ventral distal limbs with abnormal kidney, eye and cerebellar development, more disruptive, but fully concordant with NPS. Read More

View Article and Full-Text PDF
September 2021

A Novel LMX1B Variant Identified in a Patient Presenting with Severe Renal Involvement and Thin Glomerular Basement Membrane.

Nephron 2021 26;145(6):776-782. Epub 2021 Aug 26.

Department of Nephrology, Yokosuka Kyosai Hospital, Yokosuka, Japan.

We report a case of nail-patella syndrome (NPS) with unusual thinning of the glomerular basement membrane (GBM) associated with a novel heterozygous variant in the LMX1B gene. A 43-year-old female patient with a previous diagnosis of NPS, referred to our hospital for persistent proteinuria, underwent a renal biopsy, which revealed minor glomerular abnormalities. She underwent a second renal biopsy at the age of 56 owing to the presence of persistent proteinuria and decline in serum albumin, meeting the diagnostic criteria for nephrotic syndrome. Read More

View Article and Full-Text PDF

Total Shoulder Arthroplasty in a Patient with Nail-Patella Syndrome: A Case Report.

JBJS Case Connect 2021 09 2;11(3). Epub 2021 Sep 2.

Department of Orthopaedic Surgery, Gifu University Graduate School of Medicine, Gifu, Japan.

Case: A 62-year-old woman with a medical history of nail-patella syndrome (NPS) presented with chronic right shoulder pain. Physical examination revealed that her right shoulder had a restricted range of motion. Radiograph of the shoulder revealed arthritic changes with glenohumeral joint space narrowing, inferior humeral head osteophytes, and posterior glenoid wear. Read More

View Article and Full-Text PDF
September 2021

Case Report: Corneal Leucoma as a Novel Clinical Presentation of Nail-Patella Syndrome in a 5-Year-Old Girl.

Front Pediatr 2021 14;9:638630. Epub 2021 Jun 14.

Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.

Nail-patella syndrome (NPS) is a rare autosomal-dominant disorder characterized by the classic tetrad of absent or hypoplastic finger and toe nails, absent or hypoplastic patella, skeletal deformities involving the elbow joints, and iliac horns. This disease is caused by heterozygous pathogenic variations in the gene, which encodes the LIM homeodomain transcription factor protein (LMX1B). We report a case of corneal leucoma and dysplasia prior to overt steroid-resistant nephrotic syndrome (SRNS) in a patient with NPS. Read More

View Article and Full-Text PDF

LMX1B-associated nephropathy that showed myelin figures on electron microscopy.

CEN Case Rep 2021 11 2;10(4):588-591. Epub 2021 Jun 2.

Department of Nephrology, Tokyo Medical University Ibaraki Medical Center, 3-20-1 Chuo Ami, Inashiki, Ibaraki, 300-0395, Japan.

The mutation of LIM homeodomain transcription factor LMX1B gene leads to nail-patella syndrome (NPS), which is characterized by dysplastic nails, hypoplastic patellae, iliac horns and nephropathy. The characteristic renal histological finding of NPS nephropathy is irregular thickening of the glomerular basement membrane with patchy lucent areas, including deposits of bundles of type III collagen fibrils revealed by electron microscopy (EM). Fabry disease is a lysosomal storage disorder caused by a deficiency of α-galactosidase A activity, and the characteristic EM finding is a lamellated membrane structure (myelin figures). Read More

View Article and Full-Text PDF
November 2021

Robotic-Assisted Lateral Unicompartmental Knee Arthroplasty in a Patient With Nail-Patella Syndrome.

Arthroplast Today 2021 Apr 2;8:171-175. Epub 2021 Apr 2.

Department of Orthopaedic Surgery, Hospital for Special Surgery, West Palm Beach, FL.

A 59-year-old woman with nail patella syndrome (NPS) presented with progressive and severe right knee pain for the past 3 years. Imaging demonstrated laterally dislocated patella, with asymmetric femoral trochlea, and advanced lateral compartment arthritis. The patient underwent robotic-assisted lateral unicompartmental knee arthroplasty (RAUKA). Read More

View Article and Full-Text PDF

Peters Anomaly in Nail-Patella Syndrome: A Case Report and Clinico-Genetic Correlation.

Cornea 2021 Nov;40(11):1487-1490

University of Illinois Eye and Ear Infirmary, Chicago, IL; and.

Purpose: The purpose of this study was to report the clinicopathological features of Peters anomaly in a child with nail-patella syndrome.

Methods: Nail-patella syndrome (NPS) is a rare autosomal dominant connective tissue disorder characterized by several anomalies of the extremities, joints and nails, glomerulopathy, and rarely ocular involvement. NPS is caused by heterozygous loss-of-functional mutations in the LMX1B gene that encodes the LIM homeodomain proteins. Read More

View Article and Full-Text PDF
November 2021

A Novel Mutation in LMX1B (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype.

Intern Med 2021 Sep 5;60(18):2991-2996. Epub 2021 Apr 5.

Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine, Japan.

A 69-year-old woman presented with mild renal dysfunction, proteinuria, and sensorineural hearing loss. A renal biopsy showed focal segmental glomerulosclerosis with thinning of the glomerular basement membrane. There was a positive family history of end-stage kidney disease and hearing loss. Read More

View Article and Full-Text PDF
September 2021

Diagnosing nail-patella syndrome: can it be so simple?

BMJ Case Rep 2021 Mar 10;14(3). Epub 2021 Mar 10.

Neonatology, All India Institute of Medical Sciences Jodphur, Jodhpur, Rajasthan, India.

We describe here an interesting case of a 7-day-old male infant brought with parental concerns of inability to extend both knees. Clinical evaluation revealed dysplastic fingernails, bilateral abnormal patellae, triangular lunules in conjunction with pathognomic iliac horns on pelvic radiographs suggesting the possibility of nail-patella syndrome (NPS). Other competing diagnoses with similar phenotypic features were considered and sequentially excluded. Read More

View Article and Full-Text PDF

Nail patella syndrome.

Joint Bone Spine 2021 05 21;88(3):105139. Epub 2021 Jan 21.

Department of Ophthalmology, CHRU de Besançon, Besançon, France.

View Article and Full-Text PDF

A rare disorder causing chronic joint pain in an adolescent.

Nicole Millard

JAAPA 2021 Feb;34(2):32-34

Nicole Millard practices in family medicine at Wake Forest Baptist Health in Mount Airy, N.C. The author has disclosed no potential conflicts of interest, financial or otherwise.

Abstract: This article describes a patient with chronic knee pain and deformities of her hands and feet that led to a diagnosis of nail-patella syndrome, a rare autosomal dominant disorder. Read More

View Article and Full-Text PDF
February 2021

[Prenatal diagnosis and pedigree analysis of a case of Nail-patella syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Nov;37(11):1257-1260

Changzhou Children's Hospital, Changzhou, Jiangsu 213003, China.

Objective: To carried out prenatal diagnosis and genetic analysis for a case with Nail-patella syndrome.

Methods: Based on the clinical phenotype and prenatal imaging, genetic testing and prenatal diagnosis were carried out through whole exome sequencing (WES) and Sanger sequencing.

Results: Analysis of amniotic fluid showed that the fetus has carried a heterozygous c. Read More

View Article and Full-Text PDF
November 2020

From Skin to Kidneys: Cutaneous Clues of Renal Disease in Children.

Dermatol Pract Concept 2020 Oct 26;10(4):e2020095. Epub 2020 Oct 26.

Dermatology Unit, University of Campania Luigi Vanvitelli, Naples, Italy.

Background: The skin is often seen as a world apart, but not rarely do cutaneous manifestations reveal signs of systemic disease.

Objectives: The aim of this review is to include in one paper all the possible correlations between nephrological and dermatological manifestations of the same disease in pediatric patients while also keeping in mind that in apparent exclusively dermatological diseases there can be nephrological manifestations as part of the same disorder and vice versa.

Methods: We searched on PubMed for a possible link between skin and kidney matching the following terms and correlated MeSH terms: dermatology, skin, kidney, renal disease, nephrology, pediatrics, child, childhood, vasculitis, and cancer. Read More

View Article and Full-Text PDF
October 2020

Telmisartan alleviates collagen type III glomerulopathy: A case report with literature review.

Exp Ther Med 2020 Dec 5;20(6):140. Epub 2020 Oct 5.

Department of Nephrology, The Second Hospital of Jilin University, Changchun, Jilin 130041, P.R. China.

Collagen type III is commonly detected in the renal interstitium and vasculature; however, it is absent in healthy glomeruli. Deposition of collagen type III in the glomerular mesangium and capillary basement membranes may arise in two rare diseases, namely collagen type III glomerulopathy (CG) and nail patella syndrome. CG is a rare glomerular disease with no specific treatment, although supportive measures for control of hypertension and edema may help to relieve symptoms. Read More

View Article and Full-Text PDF
December 2020

Nail-Patella syndrome with early onset end-stage renal disease in a child with a novel heterozygous missense mutation in the LMX1B homeodomain: A case report.

Biomed Rep 2020 Nov 4;13(5):49. Epub 2020 Sep 4.

Unidad de Investigación, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Spain.

Nail-Patella syndrome (NPS) is an inherited disease characterized by nail and skeletal anomalies, nephropathy and glaucoma. The diagnosis of NPS is based on clinical findings, including hypoplastic or absent patella, dystrophic nails, dysplasia of the elbows and iliac horns. However, the main determinant of NPS prognosis is nephropathy, which may range from asymptomatic proteinuria to end-stage renal disease. Read More

View Article and Full-Text PDF
November 2020

Plateau iris syndrome and angle-closure glaucoma in a patient with nail-patella syndrome.

Am J Ophthalmol Case Rep 2020 Dec 20;20:100886. Epub 2020 Aug 20.

Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, 310 E 14th St, New York, NY, 10003, USA.

Purpose: To describe a case of plateau iris syndrome (PIS) and angle-closure glaucoma (ACG) in a patient with nail-patella syndrome (NPS).

Observation: A 33 year-old woman of Slovakian ancestry from Norway with a history of NPS presented with angle-closure secondary to plateau iris. At the time of her NPS diagnosis, she had no ocular pathology. Read More

View Article and Full-Text PDF
December 2020

Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene.

Mov Disord 2020 12 19;35(12):2343-2347. Epub 2020 Sep 19.

Danish Dementia Research Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

Background: In a Danish family, multiple individuals in five generations present with early-onset paroxysmal cranial dyskinesia, musculoskeletal abnormalities, and kidney dysfunction.

Objective: To demonstrate linkage and to identify the underlying genetic cause of disease.

Methods: Genome-wide single-nucleotide polymorphisms analysis, Sequence-Tagged-Site marker analyses, exome sequencing, and Sanger sequencing were performed. Read More

View Article and Full-Text PDF
December 2020

Unicompartmental Knee Arthroplasty in a Patient with Nail-Patella Syndrome: A Case Report.

JBJS Case Connect 2020 Jul-Sep;10(3):e2000216

1Department of Orthopaedic Surgery, Rush University Medical Center, Chicago, Illinois 2Department of Orthopaedic Surgery, Keck Medicine of USC, Los Angeles, California.

Case: A 46-year-old woman with a medical history of nail-patella syndrome (NPS) presented with chronic right knee pain. Radiographic and physical examination revealed isolated medial tibiofemoral osteoarthritis and a hypoplastic laterally subluxed patella. The patient was successfully treated with a medial unicompartmental knee arthroplasty (UKA). Read More

View Article and Full-Text PDF

Nail-patella syndrome: "nailing" the diagnosis in three generations.

Dermatol Online J 2020 Jul 15;26(7). Epub 2020 Jul 15.

Division of Dermatology, Department of Internal Medicine, University of Kansas Medical Center, Kansas City, KS.

Nail-patella syndrome (NPS) is a hereditary disorder characterized by fingernail changes, elbow dysplasia, hypoplastic patellae, and presence of iliac horns. Clinical presentation can be subtle, and the spectrum of presentation often makes NPS a challenging diagnosis. Herein, we describe three family members with nail-patella syndrome who presented with different features and varying severity. Read More

View Article and Full-Text PDF

A novel mutation in LMX1B gene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings.

Pediatr Dermatol 2020 Nov 6;37(6):1205-1206. Epub 2020 Sep 6.

Dermatology Unit, Department of Medical, Surgical and Neurosciences, Siena University Hospital, Italy.

We report on a 3-month-old female patient presenting with bilateral anonychia of the thumbnails and hyponychia of the index nails. Clinico-dermoscopic examination revealed triangular lunulae in all fingernails. Sequence analysis of LMX1B gene identified a novel heterozygous de novo mutation within exon 2, pathogenetic for a nail-patella syndrome. Read More

View Article and Full-Text PDF
November 2020

Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report.

BMC Nephrol 2020 08 13;21(1):341. Epub 2020 Aug 13.

Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, 200 First St SW, Rochester, MN, 55905, USA.

Background: Genetic changes in the LIM homeobox transcription factor 1 beta (LMX1B) have been associated with focal segmental glomerulosclerosis (FSGS) without the extra-renal or ultrastructural manifestations of Nail-patella syndrome (NPS) known as Nail-patella-like renal disease (NPLRD). Fabry disease (FD) is an X-linked lysosomal disease caused by the deficiency of alpha-galactosidase A. The classic form of the disease is characterized by acroparesthesia, angiokeratomas, cornea verticillata, hypertrophic cardiomyopathy, strokes, and chronic kidney disease. Read More

View Article and Full-Text PDF

Focal Segmental Glomerulosclerosis and Scheduled Pretransplant Plasmapheresis: A Timely Diagnosis of Nail-Patella Syndrome Avoided More Futile Immunosuppression.

H Trimarchi

Case Rep Nephrol 2020 24;2020:8879555. Epub 2020 Jul 24.

Nephrology Service, Hospital Británico de Buenos Aires, Buenos Aires, Argentina.

Focal and segmental glomerulosclerosis (FSGS) is a histopathological pattern of injury. As such, it encompasses a wide variety of dissimilar entities with different pathophysiologic mechanisms. Although ultrastructural morphological characteristics can specifically diagnose certain diseases and genetic mutations can also be unravelled, this ideal situation is generally not available worldwide. Read More

View Article and Full-Text PDF