Results 191 to 200 of about 14,748 (240)

Hereditary palmoplantar keratoderma – phenotypes and mutations in 64 patients

Journal of the European Academy of Dermatology and Venereology, 2021
Hereditary palmoplantar keratodermas (PPK) represent a heterogeneous group of rare skin disorders with epidermal hyperkeratosis of the palms and soles, with occasional additional manifestations in other tissues.
L. Harjama, V. Karvonen, K. Kettunen, O. Elomaa, E. Einarsdottir, H. Heikkilä, S. Kivirikko, P. Ellonen, J. Saarela, A. Ranki, J. Kere, K. Hannula-Jouppi   +11 more
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Acquired Palmoplantar Keratoderma

American Journal of Clinical Dermatology, 2007
Palmoplantar keratodermas (PPKs) are a diverse entity of disorders that are characterized by abnormal thickening of the skin on the palms and soles. Traditionally they have been classified as either hereditary or acquired and are distinguished from each other on the basis of mode of inheritance, presence of transgrediens (defined as contiguous ...
Shaily, Patel, Matthew, Zirwas, Joseph C, English   +2 more
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RSPO1-mutated fibroblasts from non-tumoural areas of palmoplantar keratoderma display a cancer-associated phenotype

EJD. European journal of dermatology, 2021
R-spondin (RSPO)1 is a fibroblast-secreted protein that belongs to the R-spondin protein family which is essential for reproductive organ development, epithelial stem cell renewal and cancer induction or suppression.
E. Dellambra, S. Cordisco, V. Proto, E. Nicodemi, B. Didona, C. Cesario, E. Pisaneschi, Carola Valente, M. Teson, D. Castiglia, L. Guerra   +10 more
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Circumscribed Palmoplantar Keratoderma

Australasian Journal of Dermatology, 1970
SUMMARYA case of focal tender thickening of the palms and soles, with associated abnormalities of the cornea, is described. It is believed to be an example of circumscribed palmo‐plantar keratoderma, of autosomal recessive inheritance. Possible mechanisms involved in the production of the lesions are considered, and an approach to treatment discussed.
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Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature *

British Journal of Dermatology, 2020
No specific or curative therapy exists for hereditary palmoplantar keratoderma (hPPK), which can profoundly alter patient quality of life, leading sometimes to severe functional impairment and pain. The rarity and the aetiological diversity of this group
C. Bodemer, P. Steijlen, J. Mazereeuw-Hautier, E. O’Toole   +3 more
semanticscholar   +1 more source

Hereditary Palmoplantar Keratodermas

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, 2009
SummaryHereditary palmoplantar keratodermas (PPK) comprise a clinically and genetically heterogeneous group of genodermatoses, which share impaired epidermal differentiation resulting in prominent palmoplantar hyperkeratosis. Classically, keratodermas have been separated according to their clinical appearance into diffuse, focal, and as a feature of ...
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The inherited palmoplantar keratodermas

British Journal of Dermatology, 1997
The inherited palmoplantar keratodermas (PPK) constitute a complex heterogeneous group of genodermatoses, which are difficult to classify clinically. The application of modern molecular biology techniques are leading to an increased understanding of the genetic bases of these disorders and are paving the way towards a classification based upon ...
R C, Ratnavel, W A, Griffiths
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Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B

Clincal and Experimental Dermatology, 2020
Palmoplantar keratoderma (PPK) refers to a large group of disorders characterized by extensive genetic and phenotypic heterogeneity. PPK diagnosis therefore increasingly relies upon genetic analysis.
J. Mohamad, L. Samuelov, L. Malki, A. Peled, M. Pavlovsky, K. Malovitski, S. Taiber, N. Adir, T. Rabinowitz, N. Shomron, J. Milner, G. Lestringant, O. Sarig, E. Sprecher   +13 more
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Palmoplantar Keratoderma with Amyotrophy

Dermatology, 1988
Four members of a South African Black family who have palmoplantar keratoderma with amyotrophy are reported. No neuromuscular defects have been found and the muscle thinning appears to result from disuse atrophy. Volar hyperhidrosis, nail abnormalities and in 2 cases knuckle pads, were additional features.
W K, Jacyk, P L, Bill
openaire   +2 more sources

CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma

British Journal of Dermatology, 2019
Aquagenic palmoplantar keratoderma (APK) is a rare skin disorder characterized by skin wrinkling with oedema and whitish papules on the palms and/or soles, pruritus, burning, and pain after contact with water.
C. Raynal, E. Girodon, M. Audrézet, F. Cabet, A. Pagin, M. Reboul, F. Dufernez, P. Fergelot, A. Bergougnoux, P. Fanen, C. Férec, T. Bienvenu   +11 more
semanticscholar   +1 more source