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About 390 results

ALLMedicine™ Onychodystrophy Center

Research & Reviews  193 results

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 10.1038/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 2nd, 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...

A dangerous onychodystrophy.
https://doi.org/10.1002/ajh.26046
American Journal of Hematology REFERENCES; Martinelli N, Olivieri O

Nov 12th, 2020 - A dangerous onychodystrophy.|2020|Martinelli N,Olivieri O,|

Coats plus syndrome (cerebroretinal microangiopathy with calcifications and cysts-1): A...
https://doi.org/10.1111/pde.14366
Pediatric Dermatology; Morgado F, Batista M et. al.

Oct 3rd, 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...

Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syn...
https://doi.org/10.1684/ejd.2020.3850
European Journal of Dermatology : EJD; Danarti R, Rahmayani S et. al.

Sep 24th, 2020 - DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures; MIM 220500) is a rare multisystem genetic disorder, mainly characterized by sensorineural deafness, shortened terminal phalanges with small nails of hands ...

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Clinicaltrials.gov  193 results

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 10.1038/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 2nd, 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...

A dangerous onychodystrophy.
https://doi.org/10.1002/ajh.26046
American Journal of Hematology REFERENCES; Martinelli N, Olivieri O

Nov 12th, 2020 - A dangerous onychodystrophy.|2020|Martinelli N,Olivieri O,|

Coats plus syndrome (cerebroretinal microangiopathy with calcifications and cysts-1): A...
https://doi.org/10.1111/pde.14366
Pediatric Dermatology; Morgado F, Batista M et. al.

Oct 3rd, 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...

Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syn...
https://doi.org/10.1684/ejd.2020.3850
European Journal of Dermatology : EJD; Danarti R, Rahmayani S et. al.

Sep 24th, 2020 - DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures; MIM 220500) is a rare multisystem genetic disorder, mainly characterized by sensorineural deafness, shortened terminal phalanges with small nails of hands ...

see more →

News  4 results

Clinical Pearl: Benzethonium Chloride for Habit-Tic Nail Deformity
https://www.mdedge.com/dermatology/article/204312/hair-nails/clinical-pearl-benzethonium-chloride-habit-tic-nail-deformity?channel=39452
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.

Subungual Onycholemmal Cyst of the Toenail Mimicking Subungual Melanoma
https://www.mdedge.com/dermatology/article/111218/dermatopathology/subungual-onycholemmal-cyst-toenail-mimicking-subungual/page/0/1

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.

Scaly Plaque With Pustules and Anonychia on the Middle Finger
https://www.mdedge.com/dermatology/article/104948/dermatopathology/scaly-plaque-pustules-and-anonychia-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.

Bilateral Onychodystrophy in a Boy With a History of Isolated Lichen Striatus
https://www.mdedge.com/dermatology/article/88460/contact-dermatitis/bilateral-onychodystrophy-boy-history-isolated-lichen/page/0/1

Nov 5th, 2014 - Many of the reported cases of LS have described a pattern of distribution along the lines of Blaschko. 5,6,16,17 Lines of Blaschko are thought to be embryologic in origin and caused by the segmental growth of clones of cutaneous cells or the mutati.

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