Results 171 to 180 of about 282,297 (205)

Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree

Journal of the European Academy of Dermatology and Venereology, 2009
Diffuse palmoplantar keratoderma (DPPK) is an autosomal dominant genodermatosis characterized by uniform hyperkeratosis of the palm and sole epidermis. This disorder can be caused by mutations in the genes keratin 1, keratin 9, keratin 16, desmoglein 1 and plakoglobin.
X P, Liu, J, Ling, H, Xiong, X L, Shi, X, Sun, Q, Pan, Z M, Hu, L Q, Wu, D S, Liang, Z G, Long, H P, Dai, J H, Xia, K, Xia   +12 more
openaire   +2 more sources

Multiple Myeloma in a Patient with Systemic Lupus Erythematosus, Myasthenia Gravis and Non-Familial Diffuse Palmoplantar Keratoderma

Leukemia & Lymphoma, 2004
The coexistence of autoimmune diseases and malignancies including lymphoproliferative diseases is often reported in the literature. Here we report an unusual case with two autoimmune diseases--myasthenia gravis (MG) and systemic lupus erythematosus (SLE) associated with unique palmoplantar keratoderma (PK) which preceded the development of multiple ...
Halina, Urbańska-Ryś, Ewa, Robak, RadzisŁaw, Kordek, Jacek, Bartkowiak, Piotr, Rieske, Anna, Woźniacka, Piotr, Smolewski, Tadeusz, Robak   +7 more
openaire   +2 more sources

Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts.

Acta dermatovenerologica Croatica : ADC, 2018
Dear Editor, Clouston syndrome, also called hidrotic ectodermal dysplasia (HED), is an autosomal dominant ectodermal dysplasia characterized by a clinical triad of onychodystrophy, generalized hypotrichosis, and palmoplantar keratoderma (1). Herein we report the case of a 24-year-old male with the distinctive clinical triad associated with multiple ...
Tasleem, Arif, Syed Suhail, Amin, Mohammad, Adil, Mohd, Mohtashim   +3 more
openaire   +1 more source

[Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2006
To identify the gene causing diffuse palmoplantar keratoderma in a Chinese pedigree.Four normal individuals and 3 patients in a diffuse palmoplantar keratoderma family and 10 unrelated control samples were recruited. The hotspot of the mutations of keratin 9 gene was analyzed by polymerase chain reaction and direct sequencing.We found a G485A ...
Xia, Sun, Xin-Zhen, Yin, Ling-Qian, Wu, Xiao-Liu, Shi, Zheng-Mao, Hu, Xiao-Ping, Liu, Qian, Pan, He-Ping, Dai, Kun, Xia, Jia-Hui, Xia   +9 more
openaire   +1 more source

Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation.

The British journal of dermatology, 2012
The palmoplantar keratodermas (PPKs) are a large group of genodermatoses comprising nearly 60 genetically distinct diseases. They are characterized by hyperkeratosis on the palms and soles with or without extrapalmoplantar hyperkeratotic lesions. Focal PPK is one of the hallmarks of pachyonychia congenita, a rare autosomal dominant disorder resulting ...
E, Akasaka, H, Nakano, A, Nakano, Y, Toyomaki, N, Takiyoshi, D, Rokunohe, Y, Nishikawa, A, Korekawa, Y, Matsuzaki, Y, Mitsuhashi, D, Sawamura   +10 more
openaire   +1 more source

Acquired diffuse palmoplantar erythema with keratoderma in Chinese patients with pustular psoriasis: A predictor for IL36 receptor antagonist c.115+6T>C mutation?

Experimental Dermatology
AbstractSeveral studies have suggested that mutation of the interleukin 36 receptor antagonist gene (IL36RN) is related to generalized pustular psoriasis (GPP), and the presence of IL36RN mutation may affect the clinical manifestations and treatment responses. However, genetic testing is not routinely available in clinical practice for the diagnosis of
Francis Li‐Tien Hsu, Chang‐Yu Hsieh, Tsen‐Fang Tsai   +2 more
openaire   +2 more sources

A druggable addiction to de novo pyrimidine biosynthesis in diffuse midline glioma

Cancer Cell, 2022
Daphne Haas-Kogan, Sharmistha Pal
exaly  

Diffuse nonepidermolytic palmoplantar keratoderma

2004
openaire   +1 more source

Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation

British Journal of Dermatology, 2011
E. Akasaka, H. Nakano, A. Nakano, Y. Toyomaki, N. Takiyoshi, D. Rokunohe, Y. Nishikawa, A. Korekawa, Y. Matsuzaki, Y. Mitsuhashi, D. Sawamura   +10 more
openaire   +1 more source

Diffuse nonepidermolytic palmoplantar keratoderma

2011
openaire   +1 more source