Results 11 to 20 of about 8,647 (203)

GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis. [PDF]

Anim Genet
Abstract Palmoplantar keratoderma in humans is a condition defined by an abnormally thickened cornified skin layer on the hands and feet. In animals, the corresponding disease is commonly termed paw pad hyperkeratosis. It can be acquired due to repeated trauma, infections, cancer, or inflammatory dermatoses, or inherited due to pathogenic variants in ...
Rietmann SJ, Malatos J, Jagannathan V, Leeb T.   +3 more
europepmc   +2 more sources

Buschke-Fischer-Brauer Keratoderma: A Case Report of a Rare Skin Disorder. [PDF]

Clin Case Rep
ABSTRACT Buschke–Fischer–Brauer keratoderma is a rare autosomal dominant disorder presenting as hyperkeratotic lesions on the palms and soles. Diagnosis requires clinical and histopathological evaluation. Management is symptomatic with keratolytics like salicylic acid and urea. Early recognition and ongoing care improve the quality of life for patients
Ahmad DS, Nasser R, Al-Janabi MH, Hassan F.   +3 more
europepmc   +2 more sources

Bi-Allelic DSG1 Splice-Site Variant Identified in a Family With Non-Syndromic Striate Palmoplantar Keratoderma. [PDF]

J Dermatol
ABSTRACT Hereditary palmoplantar keratoderma (PPK) involves hyperkeratosis of the palmoplantar skin and belongs to the palmoplantar epidermal differentiation disorders (pEDDs). One causal gene is Desmoglein 1 (DSG1), which encodes a protein crucial for epidermal integrity. Monoallelic DSG1 variants cause mild, non‐syndromic PPK, whereas bi‐allelic DSG1
Ahmed S, Cesarato N, Li Y, Xiong X, Ullah K, Khan H, Khan MJ, Thiele H, Ahmad W, Hasni MS, Betz RC.   +10 more
europepmc   +2 more sources

Delayed Diagnosis of Sézary Syndrome: Lessons From a Psoriasiform Presentation. [PDF]

Clin Case Rep
ABSTRACT Pruritic erythroderma is not always psoriasis. Resistant cases require a broad evaluation for cutaneous lymphoma. Early, timely diagnosis prevents disease progression, improves outcomes, and enhances quality of life, highlighting the need for re‐evaluation when conventional treatments fail.
Neupane S, Neupane A, Khan SA, Kausar H.
europepmc   +2 more sources

CEDNIK: Phenotypic and molecular characterization of an additional patient and review of the literature [PDF]

, 2017
Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In
Coughlin, Carrie C, Fiala, Elise, Hsu, Tina, McKinstry, Robert C, Monaghan, Kristin G, Paciorkowski, Alex R, Shinawi, Marwan   +6 more
core   +3 more sources

Mal de Meleda with lip involvement: A report of two cases

Indian Journal of Dermatology, 2012
Mal de Meleda is a rare autosomal recessive transgradient palmoplantar keratoderma characterized by transgradient keratoderma with associated scleroatrophy, nail changes, pseudoainhum around digits and perioral erythema, without a tendency for ...
Amiya Kumar Nath, Sangita Chaudhuri, Devinder Mohan Thappa   +2 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

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

Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB [PDF]

, 2019
Punctate palmoplantar keratoderma (PPPK) is a rare, autosomal dominant disorder of keratinization with three main variants. PPPK type 1 (MIM 148600), also known as Buschke-Fischer-Brauer disease, is characterized by the progressive development of ...
Leitch, C., Mackenzie, A., Smith, F. J. D., Sobey, G., Wilson, N. J., Zamiri, M.   +5 more
core   +2 more sources

Disease of the island of Meleda or keratoderma of Meleda

Vestnik Dermatologii i Venerologii, 2020
Keratoderma is a group of dermatoses characterized by a violation of keratinization processes, excessive horn formation mainly in the area of the palms and soles.
Indira N. Abduvaxitova, G’ayratillo Sh. Toxtayev, Kholikjon Kh. Safarov   +2 more
doaj   +1 more source