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    567 results match your criteria Nail-Patella Syndrome

    1 OF 12

    Short stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report.
    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

    Prospective Cardiovascular Genetics Evaluation in Spontaneous Coronary Artery Dissection.
    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

    Nail-patella syndrome: clinical clues for making the diagnosis.
    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

    Nail-Patella Syndrome: A Rare Cause of Nephrotic Syndrome in Pregnancy.
    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

    Basement Membrane Defects in Genetic Kidney Diseases.
    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

    Genetics of patella hypoplasia/agenesis.
    Clin Genet 2018 Jan 11. Epub 2018 Jan 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

    A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B.
    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

    LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes.
    Am J Kidney Dis 2017 Dec 12. 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

    Prenatal diagnosis of nail patella syndrome: A case report.
    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

    The Risks and Benefits of Cannabis in the Dermatology Clinic.
    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

    Nail-patella syndrome.
    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

    Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding.
    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

    Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.
    Genet Med 2017 Oct 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

    Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.
    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

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

    [Nail-patella syndrome and glaucoma: A case report].
    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.

    Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation.
    Sci Rep 2017 Jan 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

    Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.
    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

    Treatment of patellar instability in a case of hereditary onycho-osteodysplasia (nail-patella syndrome) with medial patellofemoral ligament reconstruction: A case report.
    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

    Nail-patella-syndrome in a young patient followed up over 10 years: relevance of the sagittal trochlear septum for patellofemoral pathology.
    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

    Nail-patella syndrome: report of 11 pediatric cases.
    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

    Radiological characteristics of the knee joint in nail patella syndrome.
    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

    Type III collagen disorders: A case report and review of literature.
    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

    Management of patellar problems in skeletally mature patients with nail-patella syndrome.
    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

    The spectrum of nephrocutaneous diseases and associations: Genetic causes of nephrocutaneous disease.
    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

    Nail patella syndrome: Knee symptoms and surgical outcomes. A questionnaire-based survey.
    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

    Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.
    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

    Collagenofibrotic glomerulopathy.
    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

    Radiographic findings in the nail-patella syndrome.
    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

    Nail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance.
    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

    Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.
    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

    Interfering parameters in the determination of urinary globotriaosylceramide (Gb3) in patients with chronic kidney disease.
    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

    Tips to diagnose uncommon nail disorders.
    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

    A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.
    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

    Spontaneous coronary artery dissection in a parturient with Nail-Patella syndrome.
    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

    Arthropathy and proteinuria: nail-patella syndrome revisited.
    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

    A microdeletion of chromosome 9q33.3 encompasses the entire LMX1B gene in a Chinese family with nail patella syndrome.
    Int J Mol Sci 2014 Nov 5;15(11):20158-68. Epub 2014 Nov 5.
    Clinical Genetics, the Affiliated Shengjing Hospital, China Medical University, Shenyang 110004, Liaoning, China.
    Nail patella syndrome (NPS) is an autosomal dominant disorder characterized by nail malformations, patellar apoplasia, or patellar hypoplasia. Mutations within the LMX1B gene are found in 85% of families with NPS; thus, this gene has been characterized as the causative gene of NPS. In this study, we identified a heterozygous microdeletion of the entire LMX1B gene using multiplex ligation-dependent probe amplification (MLPA) in a Chinese family with NPS. Read More

    [Alterations in nails and teeth as a clue for genodermatoses].
    Hautarzt 2014 Jun;65(6):513-9
    Dermatologie Universitätsspital Basel, Petersgraben 4, 4031, Basel, Schweiz,
    Background: There are about 10,000 monogenic diseases and around 30% demonstrate alterations in the skin and its appendages. As there are so many genetic different skin diseases, clear diagnosis is often very difficult.

    Aim: The goal of this review is to give the clinicians some key features on nails and teeth which might help to identify rare genodermatoses. Read More

    A rare case of nephrotic syndrome: 'nailed' the diagnosis.
    J Postgrad Med 2014 Apr-Jun;60(2):179-82
    Department of Pediatrics, Pediatric Intensive Care Unit, Seth Gordhandas Sunderdas Medical College and King Edward Memorial Hospital, Mumbai, Maharashtra, India.
    An 18-month-old female child presented to us with clinical features suggestive of nephrotic syndrome. Her physical examination and detailed family history highlighted the familial occurrence of abnormal nails, suggesting a diagnosis of the Nail-Patella syndrome. Nail-Patella syndrome is a rare cause of nephrotic syndrome in children. Read More

    A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].
    PLoS Genet 2014 May 8;10(5):e1004359. Epub 2014 May 8.
    MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Edinburgh, United Kingdom; The Roslin Institute, University of Edinburgh, Easter Bush, United Kingdom.
    Mutations in the LIM-homeodomain transcription factor LMX1B cause nail-patella syndrome, an autosomal dominant pleiotrophic human disorder in which nail, patella and elbow dysplasia is associated with other skeletal abnormalities and variably nephropathy and glaucoma. It is thought to be a haploinsufficient disorder. Studies in the mouse have shown that during development Lmx1b controls limb dorsal-ventral patterning and is also required for kidney and eye development, midbrain-hindbrain boundary establishment and the specification of specific neuronal subtypes. Read More

    Nail bed expansion: A new technique for correction of multiple isolated congenital micronychia.
    Adv Biomed Res 2014 31;3:105. Epub 2014 Mar 31.
    Skin and Stem Cell Research Center, Department of Dermatology, Tehran University of Medical Sciences, Tehran, Iran ; Skin Diseases and Leishmaniasis Research Center, Department of Dermatology, Isfahan University of Medical Sciences, Isfahan, Iran, Department of Dermatology, Rasoul-e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
    Congenital micronychia may involve big toes or may involve other nails. The etiology of micronychia is not clear but amniotic bands, teratogens (drugs, alcohol), Nail Patella Syndrome etc. A 44-year-old woman with multiple isolated congenital micronychia over her hands and feet was selected. Read More

    LIM homeobox transcription factor 1B expression affects renal interstitial fibrosis and apoptosis in unilateral ureteral obstructed rats.
    Am J Physiol Renal Physiol 2014 Jun 30;306(12):F1477-88. Epub 2014 Apr 30.
    Cellular Stress and Ageing Program, Bionanoscience and Bio-Imaging Program, Bio&Nano-Solutions, Düsseldorf, Germany.
    LIM homeobox transcription factor 1B (LMX1B) is a transcription factor of the LIM homeodomain type and has been implicated in the development of diverse structures such as limbs, kidneys, eyes, and the brain. Furthermore, LMX1B has been implicated in nail-patella syndrome, which is predominantly characterized by malformation of limbs and nails, and in 30% of patients, nephropathy, including renal fibrosis, is observed. Since no reports were available that studied the link between LMX1B expression and renal interstitial fibrosis, we explored if LMX1B affects typical markers of fibrosis, e. Read More

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