Results 21 to 30 of about 14,748 (240)

Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype

open access: yesGenes, 2022
Bothnian palmoplantar keratoderma (PPKB, MIM600231) is an autosomal dominant form of diffuse non-epidermolytic PPK characterized by spontaneous yellowish-white PPK associated with a spongy appearance after water-immersion.
L. Fertitta   +8 more
semanticscholar   +1 more source

Dermoscopy of palmoplantar keratoderma: development and analysis methods

open access: yesNasza Dermatologia Online, 2022
Palmoplantar keratoderma (KPP) is a group of inherited or acquired conditions characterized by palmar and plantar hyperkeratosis. The analysis can be difficult, however, thanks to dermoscopy, which is a non-invasive means of exploration, certain signs ...
R. Dassouli   +5 more
semanticscholar   +1 more source

Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases

open access: yesInternational Journal of Molecular Sciences, 2022
Palmoplantar keratoderma is a clinically polymorphic disorder with a heterogeneous etiology characterized by marked hyperkeratotic lesions on the surface of palms and soles.
O. Shchagina   +6 more
semanticscholar   +1 more source

A case of acrodermatitis enteropathica mimicking mutilating palmoplantar keratoderma

open access: yesIndian Journal of Dermatology, 2022
Acrodermatitis enteropathica (AE) is a rare inherited form of defective zinc absorption usually manifesting as eczematous and erosive dermatitis preferably over periorificial and acral areas which at times mimics various hereditary palmoplantar ...
B. Behera   +3 more
semanticscholar   +1 more source

Drugs Associated With the Development of Palmoplantar Keratoderma: A Systematic Review

open access: yesJournal of Cutaneous Medicine and Surgery, 2021
Background Palmoplantar keratoderma (PPK) are a heterogenous group of hereditary and acquired disorders that are characterized by excessive epidermal thickening of the palms and/or soles.
S. Mirali   +4 more
semanticscholar   +1 more source

Identification of a Rare Case With Nagashima-Type Palmoplantar Keratoderma and 18q Deletion Syndrome via Exome Sequencing and Low-Coverage Whole-Genome Sequencing

open access: yesFrontiers in Genetics, 2021
Nagashima-type palmoplantar keratoderma (NPPK) is characterized by non-progressive, diffuse, and cross-gradient hyperkeratosis caused by mutations in the SERPINB7 gene on chromosome 18q21.33. Chromosome 18q deletion syndrome (18q- syndrome) is a terminal
Qianqian Li   +5 more
semanticscholar   +1 more source

Striate palmoplantar keratoderma [PDF]

open access: yesDefinitions, 2020
Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin.
openaire   +2 more sources

Three new founder mutations in Chinese patients with Nagashima‐type palmoplantar keratoderma

open access: yesBritish Journal of Dermatology, 2022
1 Schulz R, Beach SR. Caregiving as a risk factor for mortality: the Caregiver Health Effects Study. JAMA 1999; 282:2215–19. 2 Vitaliano PP, Zhang J, Scanlan JM. Is caregiving hazardous to one’s physical health? A meta-analysis.
Juan Liu   +11 more
semanticscholar   +1 more source

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

open access: yesIndian 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   +2 more
doaj   +1 more source

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

open access: yes, 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   +6 more
core   +3 more sources

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