Results 161 to 170 of about 282,297 (205)

Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5

British Journal of Dermatology, 2015
Autosomal dominant diffuse non-epidermolytic palmoplantar keratoderma (NEPPK) is a clinically and genetically heterogeneous disorder, one form of which is associated with a whitish spongy appearance upon immersion in water (MIM 600231). Using linkage data in combination with whole-exome sequencing in families with NEPPK, heterozygosity for 5 different ...
Abdul-Wahab, A, Takeichi, T, Liu, L, Lomas, D, Hughes, B, Akiyama, M, McGrath, J A, Mellerio, J E   +7 more
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Non-small-cell lung cancer with nonfamilial diffuse palmoplantar keratoderma.

Journal of experimental & clinical cancer research : CR, 2002
Palmoplantar keratoderma (PPK) is a congenital or acquired disorder characterized by the abnormal thickening of the skin of the palms and soles. The thickening can present as a diffuse, focal or punctate pattern. It has been reported to be associated with internal malignancies such as lung and esophageal carcinomas.
Kars, A, Altundag, O, Akdogan, A, Guler, N, Engin, H   +4 more
openaire   +3 more sources

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Diffuse Palmoplantar Keratoderma With Deafness

Archives of Dermatology, 1982
• Two brothers with diffuse palmoplantar keratoderma (Thost-Unna type) also were deaf. Of the 38 members of the patients' family, five had a similar disorder and ten had only hearing loss. The mode of inheritance of the dermatosis is regarded as autosomal dominant and is diagnostically distinguished from the other dermatoses associated with the ...
A, Hatamochi, S, Nakagawa, H, Ueki, K, Miyoshi, I, Iuchi   +4 more
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Nonfamilial diffuse palmoplantar keratoderma associated with bronchial carcinoma

Journal of the American Academy of Dermatology, 1993
A 61-year-old black woman had epidermoid carcinoma of the lung and the recent onset of diffuse hyperkeratosis of the palms and soles. These findings suggested an association between internal malignancy and palmoplantar hyperkeratosis. This report discusses the palmoplantar keratodermas, including those associated with malignancy.
S K, Khanna, F A, Agnone, A I, Leibowitz, R A, Raschke, M, Trehan   +4 more
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Diffuse plane xanthomatosis and acquired palmoplantar keratoderma in association with myeloma

British Journal of Dermatology, 2006
We report a patient with diffuse plane xanthomatosis, acquired palmoplantar keratoderma, and myeloma. Although diffuse plane xanthomatosis is a recognized manifestation of paraproteinaemia, keratoderma is not. However, successful treatment of the myeloma in our patient coincided with a dramatic improvement in the keratoderma, suggesting a genuine ...
C H, Smith, J N, Barker, R J, Hay
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Hereditary diffuse palmoplantar keratodermas in Slovenia: epidemiologic foci in remote rural areas

Wiener klinische Wochenschrift, 2006
Previous studies carried out in Slovenia revealed a high frequency of cases of hereditary diffuse palmoplantar keratodermas (DPPK). The relatively small total population of about two million in a small territory and an efficient public health service were favorable preconditions for such a study.Existing hospital and outpatient department records ...
Jovan, Miljković, Aleksej, Kansky, Gaj, Vidmar   +2 more
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Pathological features and gene mutation analysis in two pedigrees of diffuse palmoplantar keratoderma

HEREDITAS, 2007
We report the clinical and pathological features of two pedigrees of palmoplantar keratoderma (PPK), the expression of keratin 9 (K9) in palm tissue and the mutation of the keratin 9 gene (KRT9). Histopathology and immunohistochemical assessment was performed to analyze the epidermis in the palm of the probands. Genomic DNA of 46 family individuals was
Xin-Zhen, Yin, Bao-Rong, Zhang, Mei-Ping, Ding, Hao, Zhang, Kun, Xia, Zheng-Mao, Hu   +5 more
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Novel Splice-Site Mutation of KRT1 Underlies Diffuse Palmoplantar Keratoderma in a Large Chinese Pedigree

Genetic Testing and Molecular Biomarkers, 2018
To identify potential causative gene mutations in a large Han Chinese pedigree with diffuse nonepidermolytic palmoplantar keratoderma (NEPPK).We enrolled 11 patients and 8 healthy individuals from a pedigree with NEPPK and 100 randomly selected healthy controls. Biopsy samples were obtained from the proband.
Zhuang-Li, Tang, Tian, Wang, Tong, Xiao, Ya-Qi, Wang, Cheng-Wen, Ma, Xin-Wu, Niu, Sheng-Xiang, Xiao, Xiao-Peng, Wang   +7 more
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The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13

Human Molecular Genetics, 1994
Hereditary palmoplantar keratoderma is characterized by hyperkeratosis of the skin of palms and soles. An autosomal dominant form of diffuse non-epidermolytic palmoplantar keratoderma, frequently complicated by fungal infections, is encountered in northern Sweden with a prevalence of 0.3-0.55%.
L, Lind, A, Lundström, P A, Hofer, G, Holmgren   +3 more
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Inherited Diffuse Palmoplantar Keratoderma with Transgradient Extension: A Case Report

International Journal of Drug Delivery Technology
Background: Palmoplantar keratoderma (PPK) represents a heterogeneous group of disorders characterized by abnormal thickening of the skin over the palms and soles. These disorders can be acquired or inherited, and autosomal dominant or recessive patterns are frequently used in the transmission of hereditary variants. Usually appearing early in infancy,
Dr. Nourin Basheer, Dr. Sowmya P, Dr. Hemita Joeline S   +2 more
openaire   +1 more source