Results 101 to 110 of about 7,987 (210)

Clinical Study on Palmoplantar Keratoderma [PDF]

, 2012
INTRODUCTION : Palmoplantar keratodermas are a heterogenous group of disorders characterized by hyperkeratosis of palms and soles. They may be inherited or acquired disorders.
Mohanasundari, P S
core  

Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair

, 2009
The phenotypic triad of arrhythmogenic right ventricular cardiomyopathy (ARVC) associated with palmoplantar keratoderma and woolly hair has been previously associated with homozygous mutations in both plakoglobin and desmoplakin, which are both critical ...
Patton, M A, Crosby, A H, Behr, E R, Simpson, M A, McKenna, W J, Kalidas, K, Mansour, S, Ahnood, D   +7 more
core   +1 more source

Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma

Frontiers in Oncology
Olmsted syndrome (OS) is a rare congenital skin disorder, typically characterized by symmetrical, severe palmoplantar and periorificial keratoderma, often accompanied by alopecia, and onychodystrophy, with varying degrees of pruritus and pain.
Yangyang Hao, Rong Wu, Xi Chen, Yunjia Shen, Mengwei Chou, Jianqiang Yang   +5 more
doaj   +1 more source

Aquagenic Palmoplanta keratoderma: Response to Topical Pimecrolimus and Literature Review

Clinical, Cosmetic and Investigational Dermatology
Jinpeng Shan, Rukang Chen Department of Dermatology, The Second Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou, Zhejiang, 310005, People’s Republic of ChinaCorrespondence: Rukang Chen, Department of Dermatology, The Second ...
Shan J, Chen R
doaj  

PATHOPHYSIOLOGY OF THE CYCLICAL EPIDERMOLYTIC PALMOPLANTAR KERATODERMA (EPPK) IN THE KERATIN 9 MOUSE MODEL [PDF]

, 2017
Keratin 9 (KRT9/Krt9) is a type I intermediate filament protein that is constitutively expressed in the suprabasal layer of the thicker and specialized epidermis of the palmoplantar skin. Mutations at the KRT9/Krt9 locus cause epidermolytic palmoplantar
Shen, Joseph YuHung
core  

Pathogenic Variants in the ABCA12 Gene Associated to Autosomal Recessive Congenital Ichthyosis: Report of an Attenuated Phenotype

European Medical Journal Dermatology
Congenital ichthyosis represents keratinisation disorders characterised by abnormal skin scaling across the entire body, leading to a red, denuded, and scaly appearance.
Gabriela Mantilla Beltrán, Ana María Navarro Pinilla, Diego Andrés Padilla Mantilla, Alfonso Suárez Camacho, Mónica Paola Novoa Candia   +4 more
doaj   +1 more source

Disruption of TUFT1, a Desmosome-Associated protein, causes skin fragility, woolly hair, and Palmoplantar Keratoderma [PDF]

Desmosomes are dynamic complex protein structures involved in cellular adhesion. Disruption of these structures by loss-of-function variants in desmosomal genes leads to a variety of skin- and heart-related phenotypes. In this study, we report TUFT1 as a
Silljé, H., Bolling, M., Vermeer, M., van der Molen, M., Uitterlinden, A., Dean, M., Hublin, J. ; https://orcid.org/, Giepmans, B., Slotman, J., M.W., A., Saris, J., Diercks, G., Meijer, H., van den Ouweland, Oberdorf-Maass, S., Hoes, M., Nijenhuis, M., Verlouw, J., Andrei, D., Bremer, J., Hoogeboom, A., Verkerk, A., C., P., Arp, P., Schouten, M., Willemsen, R., van der Meer, P., Kramer, D., van den Akker, Pas, H., Stoop, H., Romero-Herrera, P.   +31 more
core   +1 more source

Linear Palmoplantar Keratoderma

Actas Dermo-Sifiliográficas (English Edition), 2018
A, Imbernón-Moya, A, Aguilar-Martínez, E, Vargas-Laguna   +2 more
openaire   +2 more sources

MAL De Meleda Type Of Keratoderma

Indian Journal of Dermatology, 2001
A child born of a consanguineous marriage showing characteristic features of Mal de Meleda type of palmoplantar keratoderma is reported for its rarity and clinical interest.
Pandhi Deepika, Reddy BSN
doaj  

A Case Report of Keratoderma and Bilateral Deafness

پزشکی بالینی ابن سینا, 2014
Introduction: Various inherited or acquired disorders are characterized by palmoplantar kera-toderma hyperkeratosis of hands and feet, and when accompanied with deafness indicates mutations in the gene encoding connexin -26 or a particular mutation ...
Gholamreza Eshghi, Heshmatollah Babaie, Hasan Faghani   +2 more
doaj