About 193 results

ALLMedicine™ Onychodystrophy Center

Research & Reviews  71 results

Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
https://doi.org/10.1007/s00439-021-02310-2 10.1126/science.aaz2924 10.1111/j.1399-0004.2011.01729.x 10.1038/s41418-019-0313-x 10.1097/MCD.0000000000000204 10.1136/jmedgenet-2020-107511 10.1002/humu.22557 10.1212/WNL.0000000000002807 10.12688/f1000research.10588.1 10.1016/j.ajhg.2019.04.012 10.1001/archneur.65.7.943 10.1038/s41436-020-00950-9 10.1038/s41436-020-00950-9 10.1242/jeb.02014 10.1016/j.celrep.2017.07.040 10.1152/physiol.00007.2013 10.1242/jeb.028803 10.1002/ajmg.c.31412 10.1016/S1474-4422(13)70265-5 10.1007/BF00281463 10.1016/j.ejmg.2013.08.004 10.1007/s00018-020-03721-6 10.1016/j.ajhg.2010.08.001 10.1016/j.neuron.2010.06.024 10.1016/j.ajhg.2010.07.020 10.1073/pnas.1316294111 10.1083/jcb.201406026 10.1007/s00335-017-9706-7 10.1074/jbc.M115.685222 10.1093/hmg/ddy370 10.1038/nrm2272 10.1038/jhg.2016.1 10.1002/ajmg.a.32129 10.1038/s41436-021-01167-0 10.1158/0008-5472.CAN-07-0107 10.1038/tp.2016.221 10.1001/archotol.1969.00770030476012 10.1002/emmm.201100135 10.1038/ncb1348 10.1684/epd.2020.1166 10.1002/ajmg.a.32054 10.3389/fncel.2014.00172 10.1007/s100380050109 10.1038/ng.3282 10.1523/JNEUROSCI.2658-17.2017 10.1016/0030-4220(64)90506-7 10.1371/journal.pgen.1008587 10.1371/journal.ppat.1002803 10.1186/s12881-016-0304-4 10.1002/ccr3.761 10.1038/srep14827 10.1002/humu.22318 10.1242/jcs.00791 10.1038/s41436-018-0290-3 10.1074/jbc.M200586200 10.1523/JNEUROSCI.3805-10.2011 10.1074/jbc.M410041200 10.1016/j.neuint.2007.10.015 10.1002/pro.3147 10.3389/fncel.2020.585669 10.1038/s41594-020-0429-1 10.1038/s41431-017-0022-1 10.1016/s0022-3476(84)81101-4 10.1097/00019605-200009040-00003 10.1016/j.ajhg.2013.12.004 10.1038/nature14580 10.1016/j.ijporl.2018.11.015 10.2174/138920312800493197 10.1016/j.ejmg.2019.103799 10.1038/ng.3153 10.7554/eLife.10116 10.1016/0168-0102(95)00989-2 10.1016/j.cell.2006.10.030 10.1002/ajmg.1320410207 10.1002/ajmg.a.61905 10.1093/hmg/ddy445 10.3390/genes11101122 10.1093/hmg/ddt076 10.1098/rstb.2013.0094 10.1172/JCI98288 10.1002/ajmg.a.34184 10.3233/JAD-160307 10.1038/cr.2014.77 10.3389/fneur.2020.00767 10.1152/ajpcell.00326.2011 10.1002/humu.22558 10.1016/j.pneurobio.2016.02.002 10.1016/j.ebiom.2019.06.035 10.1126/science.1207056
Human Genetics; Gao X, Dai P et. al.

Jul 8th, 2021 - Deafness and onychodystrophy syndromes are a group of phenotypically overlapping syndromes, which include DDOD syndrome (dominant deafness-onychodystrophy), DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures...

Diagnosis, classification, and assessment in psoriatic arthritis.
Best Practice & Research. Clinical Rheumatology; Antony A, Tillett W

Apr 12th, 2021 - There have been considerable advances in the classification and assessment of psoriatic arthritis (PsA). In this report, we give an overview of historic and current classification criteria and discuss its role and limitations in research and clini...

PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
https://doi.org/10.1007/s00439-020-02251-2 10.1038/s41431-017-0087-x 10.1212/WNL.0000000000002807 10.1111/cge.13425 10.1073/pnas.0711151105 10.1016/S1474-4422(13)70265-5 10.1002/ajmg.a.37369 10.1074/jbc.m001913200 10.1016/S0021-9258(18)53122-7 10.1038/s41586-020-2308-7 10.4161/cc.6.21.4877 10.1016/j.ajhg.2019.05.019 10.1074/jbc.m413755200 10.1042/bj20140541 10.1093/nar/gkv485 10.1016/j.tcb.2017.06.007
Human Genetics; Salian S, Benkerroum H et. al.

Jan 3rd, 2021 - DOORS syndrome is characterized by deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures. In this study, we report two unrelated individuals with DOORS syndrome without deafness. Exome sequencing revealed a homozygous mi...

Coats plus syndrome (cerebroretinal microangiopathy with calcifications and cysts-1): A...
Pediatric Dermatology; Morgado F, Batista M et. al.

Oct 4th, 2020 - We present a 6-year-old girl with skin hyperpigmentation, leukoplakia, and onychodystrophy, the classic mucocutaneous triad usually associated with dyskeratosis congenita. The patient also had premature graying of the hair, bone marrow failure, he...

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News  6 results

Clinical Pearl: Benzethonium Chloride for Habit-Tic Nail Deformity
Solomon Geizhals, BA, Shari R. Lipner, MD, PhD

Jul 9th, 2019 - Practice Gap Habit-tic nail deformity results from repetitive manipulation of the cuticle and/or proximal nail fold. It most commonly affects one or both thumbnails and presents with a characteristic longitudinal midline furrow with parallel trans.

Optimizing Topical Therapy for Onychomycosis: The Importance of Patient Education
Shari R. Lipner, MD, PhD, Dayoung Ko, BS

Nov 26th, 2018 - Onychomycosis is a fungal infection of the nail unit due to dermatophytes, yeasts, and nondermatophyte molds (NDMs). It accounts for approximately 50% of all nail disorders seen in clinical practice and is estimated to affect 10% to 12% of the US.

Subungual Onycholemmal Cyst of the Toenail Mimicking Subungual Melanoma

Mar 2nd, 2018 - It is imperative to recognize the presence of nail unit tumors early because of the risk for permanent nail plate dystrophy and the possibility of a malignant tumor. 4,5 Subungual onycholemmal cysts may present with a wide spectrum of clinical find.

Paraneoplastic Acrokeratosis (Bazex Syndrome): Unusual Association With In Situ Follicular Lymphoma and Response to Acitretin
Elena Conde-Montero, MD, Ofelia Baniandrés-Rodríguez, MD et. al.

Aug 8th, 2017 - To the Editor: Paraneoplastic acrokeratosis (PA), also known as Bazex syndrome, is a rare paraneoplastic dermatosis first described in 1965 by Bazex et al. 1 This entity is clinically characterized by dusky erythematous to violaceous keratoderma of.

Scaly Plaque With Pustules and Anonychia on the Middle Finger
Joan A. Chandra, BA, Anand Rajpara, MD et. al.

Dec 7th, 2015 - The Diagnosis: Acrodermatitis Continua of Hallopeau Acrodermatitis continua of Hallopeau (ACH) is considered to be a form of acropustular psoriasis that presents as a sterile, pustular eruption initially affecting the fingertips and/or toes. 1 The.

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