607 results match your criteria Nail-Patella Syndrome


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

CEN Case Rep 2021 Jun 2. 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

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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

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

Cornea 2021 Apr 14. Epub 2021 Apr 14.

The Centre of Excellence for Rare Eye Diseases, L V Prasad Eye Institute, Hyderabad, India; The Cornea Institute, L V Prasad Eye Institute, Hyderabad, India; Jasti V Ramanamma Children's Eye Care Center, L V Prasad Eye Institute, Hyderabad, India; Kallam Anji Reddy Molecular Genetics Laboratory, Brien Holden Eye Research Centre, L V Prasad Eye Institute, Banjara Hills, Hyderabad, India; Ophthalmic Pathology Services, L V Prasad Eye Institute, Hyderabad, India; University of Illinois Eye and Ear Infirmary, Chicago, IL; and Department of Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

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

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

Intern Med 2021 Apr 5. 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

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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

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Nail patella syndrome.

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

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

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A rare disorder causing chronic joint pain in an adolescent.

Authors:
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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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

Authors:
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

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Visual Diagnosis: Dysplastic Nails and Elbows in a 15-year-old Boy.

Pediatr Rev 2020 07;41(7):e26-e30

Department of Pediatrics, Campbell University School of Osteopathic Medicine, Lillington, NC.

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Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome.

Eur J Hum Genet 2020 10 26;28(10):1414-1421. Epub 2020 May 26.

Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

Nail-patella syndrome (NPS) is a multi-system disorder characterized by hypoplastic nails, hypoplastic patella, skeletal deformities, and iliac horns, which is caused by heterozygous variants of LMX1B. Nephropathy ranging from mild urinary abnormality to end-stage renal disease occurs in some individuals with NPS. Because of the low prevalence of NPS and the lack of longitudinal studies of its kidney involvement, the clinical, pathological, and genetic features characterizing severe nephropathy remain unclear. Read More

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October 2020

Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.

Pediatr Nephrol 2020 09 30;35(9):1647-1657. Epub 2020 Apr 30.

Department of Pathology, Stanford University, H2110, 300 Pasteur Drive, Stanford, CA, 94305, USA.

Background: Myelin figures, or zebra bodies, seen on electron microscopy were historically considered pathognomonic of Fabry disease, a rare lysosomal storage disorder caused by alpha-galactosidase A deficiency and associated with X-linked recessive mode of inheritance. More recently, iatrogenic phospholipidosis has emerged as an important alternate cause of myelin figures in the kidney.

Methods: We report two families with autosomal dominant nephropathy presenting with proteinuria and microscopic hematuria, and the kidney biopsies were notable for the presence of myelin figures and zebra bodies. Read More

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September 2020

An Exome Sequencing Study of 10 Families with IgA Nephropathy.

Nephron 2020 19;144(2):72-83. Epub 2019 Dec 19.

Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland.

Background: Immunoglobulin A nephropathy (IgAN) is a heterogeneous disorder with a strong genetic component. The advent of whole exome sequencing (WES) has accelerated the discovery of genetic risk factors underlying familial disorders.

Objectives: We set out to test whether damaging variants in known kidney disease genes explain a proportion of IgAN cases recruited in Ireland. Read More

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February 2021

A Double Case of Nail-Patella Syndrome in the Same Family: The Importance of Nail Changes as Diagnostic Clues for Renal Involvement.

Skin Appendage Disord 2019 Nov 10;5(6):405-408. Epub 2019 Jul 10.

Department of Experimental, Diagnostic and Specialty Medicine, Division of Dermatology, University of Bologna, Bologna, Italy.

Nail diseases are rarely given significant importance in general consultation and their specific examination is often neglected, while localization to the nails could be an initial sign of a syndrome or a systemic disorder. Although rarely, nail alterations could be a sign of a systemic disorder, in which a prompt observation is crucial for an early diagnosis. We describe the case of an elderly woman with a long history of nail dystrophy, previously labelled as nail fragility. Read More

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November 2019

Internal Carotid Artery Aplasia in a Patient With Nail-Patella Syndrome.

Vasc Endovascular Surg 2020 Feb 20;54(2):175-181. Epub 2019 Nov 20.

Department of Neurology, University of Missouri, Columbia, MO, USA.

Nail-patella syndrome (NPS) is a rare disorder characterized by abnormal development of ectodermal and mesodermal tissues. Classically, NPS presents as a triad of nail dysplasia, dysplastic patellae, and bony exostoses of the ilia known as "iliac horns." Apart from dermatological and skeletal abnormalities, patients may also have involvement of ophthalmologic and renal systems. Read More

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February 2020

Nail-Patella Syndrome: A Classic Case.

Dermatol Pract Concept 2019 Oct 31;9(4):271. Epub 2019 Oct 31.

Department of Dermatology, Lady Hardinge Medical College & Associated Hospitals, New Delhi, India.

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October 2019

Electron Microscopic and Immunohistochemical Findings of the Epidermal Basement Membrane in Two Families with Nail-patella Syndrome.

Acta Derm Venereol 2019 Nov;99(12):1110-1115

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. Read More

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November 2019

Surgical Treatment of Congenital and Obligatory Dislocation of the Patella in Children.

J Pediatr Orthop 2019 Sep;39(8):436-440

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

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September 2019