Results 181 to 190 of about 14,748 (240)

Biallelic mutations in LSS in autosomal‐recessive mutilating palmoplantar keratoderma

Experimental Dermatology, 2023
Mutilating palmoplantar keratoderma (PPK) is a heterogeneous genetic disease that poses enormous challenges to clinical diagnosis and genetic counselling.
Shengru Zhou   +8 more
semanticscholar   +1 more source

Investigation of Nagashima‐type palmoplantar keratoderma in China: A cross‐sectional study of 234 patients

Journal of dermatology (Print), 2022
Nagashima‐type palmoplantar keratoderma (NPPK) is the most prevalent hereditary palmoplantar keratoderma (PPK) in China, but there is a paucity of epidemiological data on the Chinese population.
Juan Liu   +10 more
semanticscholar   +1 more source

Novel and founder variants of SERPINA12 in Chinese patients with autosomal recessive palmoplantar keratoderma

British Journal of Dermatology, 2022
a common unifying origin. Differential gene expression analysis revealed T cells with shared TCRs to be enriched for central memory markers, including CD69, SELL (CD62L) and the Th2-skewing transcription factor JunB (Figure 1b). By contrast, T cells with
Yihe Liu   +7 more
semanticscholar   +1 more source

Japanese guidelines for the management of palmoplantar keratoderma

Journal of dermatology (Print), 2021
Palmoplantar keratoderma (PPK) is a collective term for keratinizing disorders in which the main clinical symptom is hyperkeratosis on the palms and soles. To establish the first Japanese guidelines approved by the Japanese Dermatological Association for
K. Yoneda   +7 more
semanticscholar   +1 more source

Palmoplantar Keratodermas

Clinics in Dermatology, 2005
The palmoplantar skin is a highly specialized tissue which is able to resist mechanical trauma and other physical stress. In recent years the more descriptive classification of keratodermas has switched to an exact molecular genetic view where gene functions are considered.
Peter H, Itin, Susanna K, Fistarol
openaire   +2 more sources

Mutations in SAM syndrome and palmoplantar keratoderma patients suggest genotype/phenotype correlations in DSG1 mutations

Journal of the European Academy of Dermatology and Venereology, 2021
Heterozygous mutations in DSG1, encoding desmoglein 1, result in autosomal dominant striate palmoplantar keratoderma (SPPK).1 Although SPPK is the predominant feature, the keratoderma is sometimes only focal or diffuse.2 In contrast, biallelic mutations ...
So Takeuchi   +10 more
semanticscholar   +1 more source

Aquagenic palmoplantar keratoderma

Journal of the American Academy of Dermatology, 2001
Aquagenic palmoplantar keratoderma is an acquired condition characterized by burning and edema limited to the hands after brief immersion in water. The 3 patients described possess a striking similarity to those with transient reactive papulotranslucent acrokeratoderma.
A C, Yan   +6 more
openaire   +2 more sources

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