نتایج جستجو برای: pachyonychia congenital

تعداد نتایج: 120621  

Journal: :Indian Journal of Dermatology, Venereology and Leprology 2007

2016
Manoj Kumar Agarwala Mary E Schwartz Frances J D Smith

We would like to emphasize the importance of genetic testing to confirm a clinical diagnosis, draw your attention to the revised classification of pachyonychia congenita (PC) and provide further information regarding this rare skin disorder. Historically, PC was subdivided, with the two major clinical forms being PC-1 and PC-2. With an improvement in the understanding of the disease based on de...

2018
Olivier Duverger Jenna C Carlson Chelsea M Karacz Mary E Schwartz Michael A Cross Mary L Marazita John R Shaffer Maria I Morasso

Pachyonychia congenita (PC) is a cutaneous disorder primarily characterized by nail dystrophy and painful palmoplantar keratoderma. PC is caused by mutations in KRT6A, KRT6B, KRT6C, KRT16, and KRT17, a set of keratin genes expressed in the nail bed, palmoplantar epidermis, oral mucosal epithelium, hair follicle and sweat gland. RNA-seq analysis revealed that all PC-associated keratins (except f...

Journal: :Journal of the European Academy of Dermatology and Venereology : JEADV 2014
I Goldberg D Fruchter A Meilick M E Schwartz E Sprecher

BACKGROUND Numerous therapeutic modalities have been proposed to treat the manifestations of pachyonychia congenita (PC). While research hopes lie with molecular therapies, patients are in need of answers regarding the efficacy of conventional treatments. AIM OF THE STUDY To determine patients' experience and preferences regarding conventional treatments for PC. METHODS The study population...

Journal: :The Journal of dermatology 2013
Makoto Ichimiya Michiya Yamaguchi Kei Nemoto Masahiko Muto

Sec. 107. Limitations on exclusive rights: Fair use Notwithstanding the provisions of sections 106 and 106A, the fair use of a copyrighted work, including such use by reproduction in copies or phonorecords or by any other means specified by that section, for purposes such as criticism, comment, news reporting, teaching (including multiple copies for classroom use), scholarship, or research, is ...

Journal: :Journal of the European Academy of Dermatology and Venereology : JEADV 2008
J Pedraz P F Peñas A Garcia-Diez

Sec. 107. Limitations on exclusive rights: Fair use Notwithstanding the provisions of sections 106 and 106A, the fair use of a copyrighted work, including such use by reproduction in copies or phonorecords or by any other means specified by that section, for purposes such as criticism, comment, news reporting, teaching (including multiple copies for classroom use), scholarship, or research, is ...

2015
Anupama Manohar Prasad Yugandar Inakanti Shiva Kumar

Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis characterized by hyperkeratosis affecting the nails and palmoplantar areas, oral leucokeratosis, and cystic lesions. It is classically subdivided into two major variants, PC-1 (Jadassohn-Lewandowski syndrome) and PC-2 (Jackson-Lawler syndrome), according to the localization of the mutations in the KRT6A/KRT16 or KRT6B/KRT17...

Journal: :Journal of the American Academy of Dermatology 2017

Journal: :Skin appendage disorders 2016
Christos Prevezas Ioanna Triantafyllopoulou Helena Belyayeva Dimitrios Sgouros Stephanos Konstantoudakis Ioannis Panayiotides Dimitrios Rigopoulos

Onychomatricoma is a rare benign fibroepithelial filamentous tumor originating from the nail matrix. It typically presents with the clinical tetrad of xanthonychia, pachyonychia, proximal splinter hemorrhages and increased transverse overcurvature of the nail plate. The giant variant can easily confuse the clinician due to its extensive nail dystrophy that can mask the characteristic features o...

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