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nail patella syndrome

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https://www.readbyqxmd.com/read/29664512/short-stature-and-hypothyroidism-in-a-child-with-nail-patella-syndrome-a-case-report
#1
C Goecke, C Mellado, C García, H García
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...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29650765/prospective-cardiovascular-genetics-evaluation-in-spontaneous-coronary-artery-dissection
#2
M Ihsan Kaadan, Carolyn MacDonald, Francesca Ponzini, Jessica Duran, Kelsey Newell, Linda Pitler, Angela Lin, Ido Weinberg, Malissa J Wood, Mark E Lindsay
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...
April 2018: Circulation. Genomic and precision medicine
https://www.readbyqxmd.com/read/29554154/nail-patella-syndrome-clinical-clues-for-making-the-diagnosis
#3
Alexandra Price, Jessica Cervantes, Scott Lindsey, Divya Aickara, Shasa Hu
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. Physical examination revealed hypoplastic fingernails with longitudinal ridging, splitting, and triangular lunulae; left patellar absence and right patellar hypoplasia; and bilateral iliac horns that had been present since birth...
February 2018: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/29515307/nail-patella-syndrome-a-rare-cause-of-nephrotic-syndrome-in-pregnancy
#4
I N Aboobacker, A Krishnakumar, S Narayanan, B Hafeeque, J C Gopinathan, F Aziz
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. Although a substantial number of patients can progress to nephrotic range proteinuria, development of end-stage kidney disease is rare. Pathological abnormalities are appreciable only by electron microscopy. Our patient who had not been diagnosed with NPS previously presented with new-onset proteinuria during the second trimester of her first pregnancy...
January 2018: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/29322497/genetics-of-patella-hypoplasia-agenesis
#5
REVIEW
C Vanlerberghe, N Boutry, F Petit
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. Even in the latter, the identification of patella anomalies is important for an appropriate patient management...
January 11, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29290531/a-familial-case-of-nail-patella-syndrome-with-a-heterozygous-in-frame-indel-mutation-in-the-lim-domain-of-lmx1b
#6
LETTER
Miho Mukai, Harumi Fujita, Noriko Umegaki-Arao, Takashi Sasaki, Fumiyo Yasuda-Sekiguchi, Tsuyoshi Isojima, Sachiko Kitanaka, Masayuki Amagai, Akiharu Kubo
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.
April 2018: Journal of Dermatological Science
https://www.readbyqxmd.com/read/29246420/lmx1b-associated-nephropathy-with-type-iii-collagen-deposition-in-the-glomerular-and-tubular-basement-membranes
#7
Nicole K Andeen, Jennifer Schleit, Christopher D Blosser, Michael O Dorschner, Fuki Marie Hisama, Kelly D Smith
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. At the time of consideration for kidney transplantation, a family history was notable for end-stage renal disease in 3 generations...
December 12, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29089684/prenatal-diagnosis-of-nail-patella-syndrome-a-case-report
#8
L D Padmanabhan, D Yesodharan, S Nampoothiri
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. To our knowledge, this is the first report of in-utero restriction of limb movements in a fetus with NPS.
July 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29056081/the-risks-and-benefits-of-cannabis-in-the-dermatology-clinic
#9
Gurbir Dhadwal, Mark G Kirchhof
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...
October 1, 2017: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/28941488/ajkd-atlas-of-renal-pathology-nail-patella-syndrome-associated-nephropathy
#10
Behzad Najafian, Kelly Smith, Mark A Lusco, Charles E Alpers, Agnes B Fogo
No abstract text is available yet for this article.
October 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/28681095/nail-patella-syndrome
#11
REVIEW
Ralph Witzgall
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. The LMX1B gene is expressed in a variety of tissues, and the symptoms are reflected nicely by its expression pattern. LMX1B is essential for dorso-ventral pattern formation in the limbs, for differentiation of the anterior portions of the eyes, for development of certain neuron populations in the central nervous system, and for the differentiation and maintenance of podocytes...
August 2017: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/28538898/do-you-know-this-syndrome-nail-patela-syndrome-a-pathognomonic-dermatologic-finding
#12
Bruna Giusto Bunjes, Marcelle da Costa Frickmann Fernandes
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. The diagnosis of nail-patella syndrome is based on clinical findings. In this paper we will discuss a case report of this syndrome and its relation with a dermatological finding.
March 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28383544/mutation-of-wif1-a-potential-novel-cause-of-a-nail-patella-like-disorder
#13
Marilyn C Jones, Sarah E Topol, Manuel Rueda, Glenn Oliveira, Tierney Phillips, Emily G Spencer, Ali Torkamani
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. However, 5% of cases remain unexplained. METHODS: Here, we present exome sequencing and analysis of four generations of a family with a dominantly inherited Nail-Patella-like disorder (nail dysplasia with some features of Nail-Patella syndrome) who tested negative for LMX1B mutation...
October 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28335748/steroid-resistant-nephrotic-syndrome-as-the-initial-presentation-of-nail-patella-syndrome-a-case-of-a-de-novo-lmx1b-mutation
#14
Tomohiro Nakata, Ryo Ishida, Yuu Mihara, Atsuko Fujii, Yoshimoto Inoue, Tetsuro Kusaba, Tsuyoshi Isojima, Yutaka Harita, Chiaki Kanda, Sachiko Kitanaka, Keiichi Tamagaki
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. She had poorly developed nails, hypoplastic patellas, dislocation of the elbows, and iliac horns in the pelvis...
March 23, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28328560/surgical-treatment-of-congenital-and-obligatory-dislocation-of-the-patella-in-children
#15
Ronen Sever, Michael Fishkin, Yoram Hemo, Shlomo Wientroub, Moshe Yaniv
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. METHODS: We retrospectively evaluated the results of group of 12 patients (15 knees), operated between the years 2002 and 2013...
March 21, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28059119/dysregulation-of-wti-kts-is-associated-with-the-kidney-specific-effects-of-the-lmx1b-r246q-mutation
#16
Gentzon Hall, Brandon Lane, Megan Chryst-Ladd, Guanghong Wu, Jen-Jar Lin, XueJun Qin, Elizabeth R Hauser, Rasheed Gbadegesin
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 LMX1BR246Q causes a renal-specific phenotype is unknown...
January 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/27450397/spectrum-of-lmx1b-mutations-from-nail-patella-syndrome-to-isolated-nephropathy
#17
Yutaka Harita, Sachiko Kitanaka, Tsuyoshi Isojima, Akira Ashida, Motoshi Hattori
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. Recent genetic analysis has found that some mutations in the homeodomain of LMX1B cause isolated nephropathy without nail, patellar or skeletal abnormality (LMX1B-associated nephropathy)...
July 23, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27284321/treatment-of-patellar-instability-in-a-case-of-hereditary-onycho-osteodysplasia-nail-patella-syndrome-with-medial-patellofemoral-ligament-reconstruction-a-case-report
#18
Yubao Gong, Chen Yang, Yang Liu, Jianguo Liu, Xin Qi
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. The patient presented with left knee pain and was found to have recurrent left patellar dislocation. The knee pain was first reported 1-year after a minor knee trauma incident. Following complete evaluation, a diagnosis of NPS was reached...
June 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27247258/nail-patella-syndrome-in-a-young-patient-followed-up-over-10-years-relevance-of-the-sagittal-trochlear-septum-for-patellofemoral-pathology
#19
Christian Konrads, Stephan Reppenhagen, Piet Plumhoff, Maximilian Rudert, Andre Steinert, Thomas Barthel
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. In most cases knees are symptomatic. Patients have hypoplastic patellae, which are laterally subluxated. In those individuals a sagittal trochlear fibrous septum was found, dividing the anterior knee-joint-space. In the literature the etiology and clinical significance of this anatomic abnormality is unclear...
2016: SICOT-J
https://www.readbyqxmd.com/read/27158442/case-report-congenital-dislocation-of-the-radial-head-a-two-in-one-approach
#20
Raju Karuppal, Anwar Marthya, Rajendran V Raman, Sandhya Somasundaran
BACKGROUND: Congenital dislocation of the radial head of the elbow is rare. It is genetically transmitted in some cases and is often associated with syndromes, such as Nail-Patella syndrome, antecubital pterygium and ulnar dysplasia. About two thirds are posterior, with the remainder being either anterior (15%) or lateral (15%). The natural history of the condition is that symptoms are relatively benign, with only some limitation of motion and deformity. Treatment either involves early attempts at reconstruction or delayed intervention at skeletal maturity with radial head excision...
2014: F1000Research
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