Results 141 to 150 of about 27,969 (160)

Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma

Journal of Medical Genetics, 2012
Background Punctate palmoplantar keratoderma (PPPK) is a rare autosomal dominant skin disorder characterised by numerous hyperkeratotic papules irregularly distributed on the palms and soles. To date, no causal gene for this disease has been identified. Methods
Guo, Bi-Rong, Zhang, Xin, Chen, Gang, Zhang, Jian-Guo, Sun, Liang-Dan, Du, Wei-Dong, Zhang, Qing, Cui, Yong, Zhu, Jun, Tang, Xian-Fa, Xiao, Ruo, Liu, Yuan, Li, Min, Tang, Hua-Yang, Yang, Xu, Cheng, Hui, Li, Ming, Gao, Min, Li, Ping, Wang, Jian-Bo, Xu, Feng-Ping, Zuo, Xian-Bo, Zheng, Xiao-Dong, Zhang, Xiao-Guang, Yang, Lin, Liu, Jian-Jun, Wang, Jun, Yang, Sen, Zhang, Xue-Jun   +28 more
openaire   +3 more sources

Alitretinoin in punctate palmoplantar keratoderma

British Journal of Dermatology, 2018
P. Yilmaz, M. Medvecz, J. Kohlhase, J. Küsel, J. Fischer, C. Has   +5 more
openaire   +3 more sources

[Molecular genetic study of a family affected with punctate palmoplantar keratoderma].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2017
To analyze the clinical characteristics and causative mutation in an ethnic Han Chinese family affected with punctate palmoplantar keratoderma (PPPK).Clinical characteristics and inheritance pattern of the family were analyzed. Two seriously affected individuals from the family were investigated by whole exome sequencing. Three healthy individuals from
Yueqin, Jia, Shaowei, Wang, Yingyu, Zhu, Dan, Luo   +3 more
openaire   +1 more source

[Focal familial palmoplantar keratoderma with punctate hyperkeratosis of the palmar creases].

Annales de dermatologie et de venereologie, 1999
Keratosis punctata of the palmar creases is a variant of punctata palmoplantar keratoderma.Keratosis punctata of the palmar creases was observed in a 53 year-old North African male. The lesions presented as small keratotic papules confined exclusively to the flexion creases of the palms and digits, with a bilateral localization on the soles.
L, Fond, J L, Perrot, A, Gentil-Perret, J F, Mosnier, J L, Michel, F, Cambazard   +5 more
openaire   +1 more source

AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer

Journal of Cutaneous Medicine and Surgery, 2020
Youssef Elhaji, Peter Hull, Emma Price   +2 more
exaly  

Only plantar lesion of punctate palmoplantar keratoderma with a novel missense mutation in the AAGAB gene: Two Japanese familial case reports and review of reported mutations

Journal of Dermatology, 2021
Ryota Hayashi, Yutaka Shimomura, Masanori Hirashima   +2 more
exaly  

Cole Disease: Guttate Hypopigmentation and Punctate Palmoplantar Keratoderma

Archives of Dermatology, 2009
Megan M. Moore, Seth J. Orlow, Hideko Kamino, Nadia Wang, Julie V. Schaffer   +4 more
openaire   +1 more source

Type I punctate palmoplantar keratoderma (Buschke-Fisher-Brauer disease) in a family—A report of two cases

Foot, 2012
Varadraj V Pai, Ravikala Rao
exaly  

Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA

Journal of Dermatological Science, 2015
Daiki Rokunohe, Daisuke Sawamura
exaly  

Low‐dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work

Journal of Dermatology, 2015
Satoko Shimizu, Toshifumi Nomura
exaly