Results 11 to 20 of about 14,748 (240)

Punctate palmoplantar keratoderma: A case report and literature review

Clinical Dermatology Review, 2023
Punctured palmoplantar keratodermas are rare autosomal-dominant keratodermas presenting as asymptomatic, tiny hyperkeratotic pigmented papules on the palms and soles.
J P Prathibha, Vijay Venkataraj Aithal
doaj   +2 more sources

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

British Journal of Dermatology, 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   +3 more sources

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

Wellcome Open Research, 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   +3 more sources

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

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

Punctate Palmoplantar Keratoderma: A Case Report

Cureus, 2023
Palmoplantar keratoderma (PPK) is an umbrella term for a group of heterogeneous disorders, acquired or inherited, that are characterized by hyperkeratosis of palmar and/or plantar surfaces. Punctate PPK (PPPK) has been shown to have an autosomal dominant
Ariel Knowles, Maya Adams, D. Glass
semanticscholar   +1 more source

A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma

Journal of the European Academy of Dermatology and Venereology, 2023
Hereditary palmoplantar keratodermas (hPPKs) comprise a heterogeneous group of skin disorders characterized by persistent palmoplantar hyperkeratosis. Loss‐of‐function variants in a serine peptidase inhibitor, SERPINA12, have recently been implicated in ...
E. Brandt, L. Harjama, O. Elomaa, J. Saarela, K. Donner, K. Lappalainen, S. Kivirikko, A. Ranki, J. Kere, K. Kettunen, K. Hannula-Jouppi   +10 more
semanticscholar   +1 more source

Treatment of Painful Palmoplantar Keratoderma Related to Pachyonychia Congenita Using EGFR Inhibitors

Biomedicines, 2022
Pachyonychia congenita (PC) is a genodermatosis associated with severe painful palmoplantar keratoderma (PPK) and thickened dystrophic nails caused by autosomal dominant-negative mutations in five genes encoding keratins 6A-B-C, 16, and 17.
C. Greco, A. Ponsen, S. Leclerc‐Mercier, J. Schlatter, S. Cisternino, C. Boucheix, C. Bodemer   +6 more
semanticscholar   +1 more source

RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development

Orphanet Journal of Rare Diseases, 2022
Background Secreted R-spondin (RSPO) proteins play a key role in reproductive organ development, epithelial stem cell renewal and cancer induction by reinforcing canonical Wnt signaling.
E. Dellambra, S. Cordisco, F. Delle Monache, S. Bondanza, M. Teson, Ezio Maria Nicodemi, B. Didona, A. Condorelli, G. Camerino, D. Castiglia, L. Guerra   +10 more
semanticscholar   +1 more source

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