Results 31 to 40 of about 7,515 (243)

Mutation analysis of the KRT9 gene in a family with epidermolytic palmoplantar keratoderma

Pifu-xingbing zhenliaoxue zazhi, 2023
Objective To investigate the pedigree and gene mutation of a family of patient with epidermolytic palmoplantar keratoderma (EPPK). Methods Clinical data were collected, and DNA samples were extracted from affected individuals and her parents. Whole-exome
Yongfeng YAO, Zhijie LUO, Zeqiao ZHANG, Fang YANG   +3 more
doaj   +1 more source

Pathogenic FAM83g palmoplantar keratoderma mutations inhibit the PAWS1::Ck1α association and attenuate wnt signalling [PDF]

, 2019
Background: Two recessive mutations in the FAM83G gene, causing A34E and R52P amino acid substitutions in the DUF1669 domain of the PAWS1 protein, are associated with palmoplantar keratoderma (PPK) in humans and dogs respectively.
A Drozdetskiy, A Elbediwy, A Huart, A Rojas-Fernandez, B Del Valle-Pérez, C Chang, C Cruciat, C Has, C Liu, D Kelsell, E Fuchs, E Lee, E Stypczyńska, F Verkaar, G Sapkota, H Mizuguchi, J Vogt, J Yang, K Cadigan, K Wu, L Fulcher, L Fulcher, L Radden, M Braun-Falco, M Drögemüller, M Hartsough, M Vinyoles, N Song, P Balmer, P Bozatzi, R Cipriano, S Amit, S Lee, S Sayyab, T Cummins, T Maruthappu, W Minzel, X Lim, Y Zhou, Z Gao   +39 more
core   +2 more sources

Palmoplantar keratoderma with keratoconus

Middle East African Journal of Ophthalmology, 2018
Palmoplantar keratodermas (PPKs) are a rare heterogeneous group of disorders characterized by abnormal thickening of the skin of palms and soles. Ocular manifestations reported with palmer planter keratosis include scleral melanosis, macular deposits, and congenital cataract.
Gupta, Ved Prakash, Chaudhari, Isha
openaire   +3 more sources

Late onset pityriasis rubra pilaris type IV treated with low-dose acitretin [PDF]

, 2016
Pityriasis rubra pilaris is a chronic inflammatory dermatosis of unknown etiology and great clinical variability. It has been divided into six categories.
Carvalho, S., Mota, F., Sanches, M., Selores, M.   +3 more
core   +1 more source

Intermediate filament–membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength [PDF]

, 2002
By tethering intermediate filaments (IFs) to sites of intercellular adhesion, desmosomes facilitate formation of a supercellular scaffold that imparts mechanical strength to a tissue.
Amargo, Evangeline V., Bannon, Leslie J., Chen, Xuejun, Godsel, Lisa M., Green, Kathleen J., Gumbiner, Barry M., Hudson, Tracie Y., Huen, Arthur C., Kelsell, David P., Leigh, Irene M., Mongiu, Anne K., Park, Jung K.   +11 more
core   +5 more sources

Olmsted syndrome: Report of two cases

Indian Journal of Dermatology, 2011
Olmsted syndrome is an uncommon genetic disorder with symmetrical, diffuse, transgredient, mutilating palmoplantar keratoderma and periorificial hyperkeratosis. Olmsted syndrome in a female patient is particularly rare, and we report two unrelated female
G K Tharini, N Hema, S Jayakumar, B Parveen   +3 more
doaj   +1 more source

Complete pachydermoperiostosis with diffuse keratoderma mimicking thyroid Acropachy: A case report and review of literature

Ibom Medical Journal, 2023
Pachydermoperiostosis (PDP) is a rare genodermatosis with prominent cutaneous, soft tissue and skeletal manifestations. It can mimic secondary causes of hypertrophic osteoarthropathy such as thyroid acropachy.
Ajani AA, Owolabi FA, Ologun O, Oninla OA, Enitan A, Olasode O   +5 more
doaj   +1 more source

Receptor tyrosine kinase and p16/CDKN2 expression in a case of tripe palms associated with non-small-cell lung cancer [PDF]

, 1999
Background: Tripe palms is a descriptive term for a cutaneous paraneoplastic keratoderma. Tripe palms are frequently associated with gastric and pulmonary carcinoma. The pathogenetic mechanism remains unknown.
Bezold, G., Dieterle, C., Greulich, K. M., Krähn, Gertraud, Peter, R. U., Wolff, H.   +5 more
core   +1 more source

Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma

Acta Oto-Laryngologica Case Reports, 2017
GJB2 gene mutation is the most common cause of congenital sensorineural hearing loss worldwide. Most GJB2 gene mutations have been associated with autosomal recessive non-syndromic hearing loss (DFNB1), but some are also associated with autosomal ...
Yasuhiro Arai, Masahiro Takahashi, Naoko Sakuma, Shin-Ya Nisio, Nobuhiko Oridate, Shin-Ichi Usami   +5 more
doaj   +1 more source

Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin

Case Reports in Dermatology, 2015
Background: Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma.
Fahad Almutawa, Thusanth Thusaringam, Kevin Watters, Tenzin Gayden, Nada Jabado, Denis Sasseville   +5 more
doaj   +1 more source