Results 31 to 40 of about 17,886 (208)

Mutations in desmoglein-1 cause diverse inherited palmoplantar keratoderma phenotypes:implications for genetic screening [PDF]

, 2017
INTRODUCTION: The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterised by thickening of the epidermis of the palms and soles. No classification system unites satisfactorily clinical presentation, pathology
Almutawa, Armstrong, Dua-Awereh, Harmon, Has, Hershkovitz, Hunt, Irvine, Itin, Keren, Klijuic, McAleer, Milingou, Nomura, Samuelov, Wan, Whittock   +16 more
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Circumscribed palmoplantar hypokeratosis: report of two brazilian cases [PDF]

Anais Brasileiros de Dermatologia, 2013
Circumscribed palmoplantar hypokeratosis is a recently recognized dermatosis and rarely reported. It was first described in 2002 and is characterized by localized loss of the horny layer in the palmoplantar area.
Lilian Kelly Rocha, Marcello Menta Simonsen Nico   +1 more
doaj   +1 more source

Papillon Lefevre syndrome: bridge between Dermatologist and Dentist [PDF]

, 2010
Papillon-Lefevre syndrome is a rare autosomal recessively inherited condition which shows features common to both dentistry and dermatology. This disease is characterized by palmoplantar hyperkeratosis and severe periodon- titis.
Brar, Rajdeep, Jindal, Sanjeev Kumar, Sheikh, Soheyl, Singla, Anshu   +3 more
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Palmoplantar Pustulosis: A Systematic Review of Risk Factors and Therapies

Psoriasis: Targets and Therapy, 2023
Kristine Heidemeyer,1,2 Marco May Lee,3 Simone Cazzaniga,1,2 Nikhil Yawalkar,1 Luigi Naldi2,4 1Department of Dermatology, Inselspital University Hospital of Bern, Bern, Switzerland; 2Centro Studi GISED, Bergamo, Italy; 3Section of Dermatology, Department
Heidemeyer K, May Lee M, Cazzaniga S, Yawalkar N, Naldi L   +4 more
doaj  

New and recurrent AAGAB mutations in punctate palmoplantar keratoderma [PDF]

, 2014
Punctate palmoplantar keratoderma type I (PPPK1; also known as Buschke-Fischer-Brauer type; OMIM 148600) is an autosomal dominant disorder of keratinization, characterised by multiple hyperkeratotic lesions on palms and soles that usually start in early ...
Boonen, S. E., Gregersen, P. A., Hohl, D., Huber, M., McLean, W. H. I., Pohler, Elizabeth, Ramsing, M., Smith, F. J., Sommerlund, M., Zamiri, M.   +9 more
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Dual Peculiarity: Two Atypical Variants of Pityriasis Rosea in a Single Patient

Clinical Dermatology Review
Pityriasis rosea (PR) is a fairly common dermatoses that we encounter in our daily practice. PR usually presents in its classical form; however, a few atypical variants have been described in the literature that may sometimes offer a diagnostic dilemma ...
Mrunalini Rayi, Prajna Shetty, Jacintha Martis   +2 more
doaj   +1 more source

Keratitis-ichthyosis-deafness syndrome, atypical connexin GJB2 genemutation, and peripheral T-cell lymphoma: more than a random association? [PDF]

, 2011
Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by a variety of skin lesions— that is, palmoplantar keratoderma, thickening of the skin, and erythematous verrucous lesions—neurosensorial hypoacusia, and keratitis
Contini, Salvatore, Cottoni, Francesca Maria Giovanna, Cucca, Francesco, Fozza, Claudio, Galleu, Antonio, Longinotti, Maurizio Roberto, Poddie, Fausto Pier'Angelo   +6 more
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Comparative effectiveness of biologics for patients with moderate-to-severe psoriasis and special area involvement: week 12 results from the observational Psoriasis Study of Health Outcomes (PSoHO)

Frontiers in Medicine, 2023
IntroductionPsoriasis localized at the scalp, face, nails, genitalia, palms, and soles can exacerbate the disease burden. Real-world studies comparing the effectiveness of treatments for these special areas are limited.MethodsPsoriasis Study of Health ...
Stefano Piaserico, Elisabeth Riedl, Lev Pavlovsky, Ronald B. Vender, Can Mert, Nithi Tangsirisap, Natalie Haustrup, Gaia Gallo, Christopher Schuster, Christopher Schuster, Patrick M. Brunner   +10 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
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A global perspective of arrhythmogenic right ventricular cardiomyopathy. [PDF]

, 2012
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a progressive inherited heart disease characterized by ventricular arrhythmias and sudden cardiac death especially in the young. ARVC has been traditionally associated with the Mediterranean basin,
Alhashemi, M, Elmaghawry, M, Yacoub, MH, Zorzi, A   +3 more
core   +1 more source