نتایج جستجو برای: leukonychia totalis

تعداد نتایج: 949  

Journal: :Human molecular genetics 2015
Huijun Wang Xu Cao Zhimiao Lin Mingyang Lee Xinying Jia Yali Ren Lanlan Dai Liping Guan Jianguo Zhang Xuan Lin Jie Zhang Quan Chen Cheng Feng Eray Yihui Zhou Jinghua Yin Guiwen Xu Yong Yang

Keratoderma-hypotrichosis-leukonychia totalis syndrome (KHLS) is an extremely rare, autosomal-dominant disorder characterized by severe skin hyperkeratosis, congenital alopecia and leukonychia totalis. The genetic defect underlying KHLS remained undetermined. By performing whole-exome sequencing in a family with KHLS, we identified a heterozygous mutation (c.23G>T [p.Gly8Val]) in GJA1, which co...

2014
Seo Wan Kim Mi Sun Kim Tae Young Han June Hyunkyung Lee Sook-Ja Son

262 Ann Dermatol Received Setember 21, 2012, Revised February 21, 2013, Accepted for publication April 22, 2013 Corresponding author: Sook-Ja Son, Department of Dermatology, Eulji General Hospital, 68 Hangeulbiseong-ro, Nowon-gu, Seoul 139-711, Korea. Tel: 82-2-970-8580, Fax: 82-2-974-1577, E-mail: ssjmdderma@ daum.net This is an Open Access article distributed under the terms of the Creative C...

2017
Anna B Witkowska Thomas J Jasterzbski Robert A Schwartz

Terry's nails are a type of apparent leukonychia, characterized by ground glass opacification of nearly the entire nail, obliteration of the lunula, and a narrow band of normal, pink nail bed at the distal border. The aim of this study is to guide clinical practice by reviewing all of the data concerning Terry's nail that have become available since the original description by Terry in 1954, wi...

Ahmadreza Rajaee Fatemeh Moeineddin Kamran Balighi,

All member of family referred to our clinic complaining of white nails. Physical examination revealed clinical features of leukonychia totalis and also the presence of sensor ineural hearing loss (SNHL), palmoplantar keratoderma (PPK) and knuckle pads, the four essential criteria for the diagnosis of Bart Pumphrey syndrome. Three generations were affected with variable presentations in ma...

2014
Eckart Haneke

Punctate leukonychia is particularly frequently seen in young girls when they start to perform their own manicure. It is thought to be of traumatic origin, but this only explains a part of the cases. Punctate und short striate leukonychia is often a sign of a hammer blow when it overlies a subungual hematoma. Crush injuries are usually bigger (Figure1). Transverse leukonychia may be a sign of l...

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