Results 201 to 210 of about 14,748 (240)

Novel mutation in the DSG1 gene causes autosomal‐dominant striate palmoplantar keratoderma in a large Syrian family

Annals of Human Genetics, 2019
Palmoplantar keratoderma (PPK) is a heterogenous group of skin disorders characterized by a persistent thickening of the palms of the hands and sometimes soles of the feet.
Batoul Abi Zamer, Mona Mahfood, B. Saleh, A. Al Mutery, A. Tlili   +4 more
semanticscholar   +1 more source

Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia

American Journal of Medical Genetics. Part A, 2019
Haim–Munk syndrome (HMS) and Papillon–Lefevre syndrome (PLS) are phenotypic variants of palmoplantar keratoderma (PPK) with progressive early‐onset periodontitis and dental caries. HMS and PLS have been associated with homozygous or compound heterozygous
Heming Wei, L. Wee, B. Born, Sokheng Seang, M. Koh, R. Yee, Grace Lin, Khadijah Rafi'ee, S. Mey, E. Tan   +9 more
semanticscholar   +1 more source

Palmoplantar keratoderma: creating a disease burden questionnaire

Journal of the European Academy of Dermatology and Venereology, 2019
Palmoplantar keratoderma (PPK) constitutes a heterogenous group of disorders that may be further subdivided into hereditary and acquired forms, characterized by hyperkeratosis of the palm and sole skin [1,2]. In recent years, the exponentially increasing
G. Hickman, C. Bodemer, E. Bourrat, M. Bennani, Charles Taieb   +4 more
semanticscholar   +1 more source

Palmoplantar keratoderma: a new phenotype in patients with hypotrichosis resulted from lanosterol synthase gene mutations

Journal of the European Academy of Dermatology and Venereology, 2022
Y. Wang, J. Zhang, C. Pan, Q. Cao, X. Y. Wang, A. Zhao, Z. Yao, J. Han, M. Li   +8 more
semanticscholar   +1 more source

Aquagenic Palmoplantar Keratoderma

Nishi Nihon Hifuka, 2003
A 13-year-old girl presented with a three-month history of whitish discoloration of her palms and lateral fingers after immersion in warm water. The symptoms arose within 5 minutes of exposure to warm water. The lesions resolved spontaneously within 20 minutes after drying the involved surfaces.
openaire   +1 more source

Alitretinoin in punctate palmoplantar keratoderma

British Journal of Dermatology, 2019
Palmoplantar keratoderma punctata type 1 (PPKP1, MIM 148600), also known as the Buschke-Fischer-Brauer type, is a hereditary disorder of keratinization, characterized by multiple hyperkeratotic papules with central indentation irregularly distributed on ...
P. Yilmaz, M. Medvecz, Jürgen Kohlhase, J. Küsel, Judith Fischer, Cristina Has   +5 more
semanticscholar   +1 more source

Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients.

Human Molecular Genetics, 2021
R. Pilz, L. Opálka, Adam Majcher, E. Grimm, L. Van Maldergem, Silvia Mihalceanu, K. Schäkel, A. Enk, F. Aubin, A. Bursztejn, E. Brischoux-Boucher, J. Fischer, R. Sandhoff   +12 more
semanticscholar   +1 more source

Circumscribed, Palmoplantar Keratoderma

Dermatology, 1982
A case of hereditary, circumscribed, palmoplantar keratoderma was reported. Histologically, remarkable orthokeratotic hyperkeratosis was observed, which stained rather basophilic and more translucent than the normal stratum corneum. The stratum granulosum was not present except in the epidermis of the acrosyringium, but the nucleus completely ...
openaire   +1 more source

Treatment of Keratin 16 Palmoplantar Keratoderma With Topical Erlotinib.

JAMA dermatology, 2022
Geoffrey Lee, P. Lowe
semanticscholar   +1 more source

Palmoplantar Keratodermas

2013
S Sacchidanand, AS Savitha, K Shilpa
openaire   +2 more sources