Results 71 to 80 of about 6,541 (223)

A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death [PDF]

, 2018
Erythrokeratodermia variabilis et progressiva (EKV-P) is caused by mutations in either the GJB3 (Cx31) or GJB4 genes (Cx30.3). We identified a rare GJB3 missense mutation, c.134G>A (p.G45E), in two unrelated patients and investigated its cellular ...
Alboulshi, A. K., Broers, M. R., Brouns, G. H., Coull, Barry. J., Easton, J. A., Kamps, M. A. F., Martin, P. E., Oji, V., van Geel, M., van Steensel, M. A. M.   +9 more
core   +5 more sources

Efficacy of Apremilast in Refractory Genital Psoriasis: A Retrospective Case Series

JEADV Clinical Practice, Volume 4, Issue 5, Page 1150-1156, December 2025.
ABSTRACT Background Genital pustular psoriasis is a rare and often underdiagnosed condition that can severely affect physical comfort, quality of life and psychological well‐being. It can be particularly challenging to manage, often requiring systemic therapies due to its potential unresponsiveness to conventional topical treatment.
Jonathan Krygier, Ursula Sass, Bertrand Richert   +2 more
wiley   +1 more source

Leukoencephalopathy and Keratoderma

Pediatric Neurology Briefs, 1995
A new familial neurocutaneous syndrome consisting of palmoplantar keratoderma (PPK) and adult-onset leukoencephalopathy is reported in four siblings from Hadassah University Hospital, Jerusalem, Israel.
J Gordon Millichap
doaj   +1 more source

Rationalising the role of Keratin 9 as a biomarker for Alzheimer’s disease [PDF]

, 2016
Keratin 9 was recently identified as an important component of a biomarker panel which demonstrated a high diagnostic accuracy (87%) for Alzheimer’s disease (AD).
A Byron, A Panchaud, A Reddy, A Reis, AG Madian, AK Deo, B Catimel, B Vafadar-Isfahani, B von Eyss, BM Riederer, BS Fu, C Ballard, C Behrends, C Bohm, C Johnson, C Mueller, C Parr, CJ Tu, CW Guo, D Bohm, D Croft, D Croft, D Ghosh, DJ Araujo, DJ Fu, EA Otto, EJ Bennett, F Caraci, F Lopitz-Otsoa, G Singh, G van Niel, GN Yin, GV De Ferrari, GV De Ferrari, I Alafuzoff, J Colas, J Jin, J Kim, J Nicholson, JC Jones, JC Mellor, JD Humphries, JG Veening, JL Richens, JL Richens, JR Denery, JS Bett, KS Carmon, L Langbein, L Liu, L Sang, L Sennels, M Bassani-Sternberg, M Brehme, M Cortes-Canteli, M Homberg, M Noguchi, M Thambisetty, M Zhou, N Sato, P Buchhave, PC Havugimana, PG Hawkins, R Killick, R Moll, RL Prentice, S de Mateo, S Fatima, S Jiang, S Liebner, S Pan, SJ Roy, SK Jeong, T Bouwmeester, T Farrah, T Glatter, T Manabe, U Stelzl, WJ Qian, WJ Qian, X Li, X Liu, Y Fang, Y Shimomura, Y Yamaguchi, YS Kim, Z Hu, ZF Du   +87 more
core   +2 more sources

Mycosis Fungoides in Pediatric Patients Revealed by Recalcitrant Psoriasiform Palmoplantar Keratoderma

JEADV Clinical Practice, Volume 4, Issue 5, Page 1202-1206, December 2025.
ABSTRACT Mycosis fungoides is a cutaneous T‐cell lymphoma with a classically relatively good prognosis, mostly diagnosed in men over the age of 50. It classically manifests as erythematosquamous plaques, but can take a variety of forms. Here we describe four cases of mycosis fungoides diagnosed in children, with psoriasiform palmoplantar keratoderma as
S. Grandjacquot, C. Ram‐Wolff, A. De Masson, P. Drabent, S. Fraitag, P. Bataille, M. Battistella, E. Bourrat   +7 more
wiley   +1 more source

Analysis of CARD14 Polymorphisms in Pityriasis Rubra Pilaris: Activation of NF-κB. [PDF]

, 2015
Pityriasis rubra pilaris (PRP) is a rare inflammatory papulo-squamous disorder manifesting with palmoplantar keratoderma and follicular hyperkeratotic papules which tend to coalesce into large, scaly, erythematous plaques often progressing to exfoliative
Andrews, Jonathan, Fuchs-Telem, Dana, Jin Chung, Hye, Keller, Matthew, Kingman, Joshua, Li, Qiaoli, Ross, Nicholas, Sarig, Ofer, Sprecher, Eli, Uitto, Jouni   +9 more
core   +2 more sources

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

Eine neuartige MBTPS2‐Missense‐Variante identifiziert Keratosis follicularis spinulosa decalvans in einem Fall von neonataler Erythrodermie

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-397, March 2026.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Beyond the Common Causes of Palmoplantar Keratoderma: Papillon–Lefevre Syndrome with a Unique Mutation

Clinical Dermatology Review
Papillon–Lefevre syndrome is a rare autosomal recessive type of syndromic palmoplantar keratoderma, associated with ectodermal dysplasia. It is also known as keratoderma with periodontitis.
Sanjanaa Srinivasa, Sumedha Ballal, Preetha Tilak, Savitha Murali, Madhukara Jithendriya   +4 more
doaj   +1 more source