Results 91 to 100 of about 4,297 (152)

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
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A case report of palmoplantar keratoderma in a 3-year-old girl: a structured approach in primary care settings [PDF]

Palmoplantar keratoderma (PPK) is a dermatological disorder characterised by excessive thickening of the palms and soles, encompassing more than 20 conditions.
Mohd Noor, Asma Amirah, Azwanis Abdul Hadi, Asma Amirah Mohd Noor, Abdul Hadi, Azwanis, Che Abdul Rahim, Abdul Rahman, Abdul Rahman Che Abdul Rahim   +5 more
core   +2 more sources

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

HEREDITARY PALMOPLANTAR KERATODERMA ASSOCIATED WITH PRIMARY (CONGENITAL) LYMPHEDEMA

, 2009
The palmoplantar keratodermas are aheterogenous group of hereditary disordersof keratinization. They are characterizedby epidermal thickening and a yellow waxyappearance of the palms and soles.
Burnand, KG, Deguara, J, Ogunbiyi, SO, Moss, C   +3 more
core  

Palmoplantar keratoderma and associated syndromes

Seminars in Dermatology, 1995
This article focuses on the current state of knowledge concerning the characterization and classification of palmoplantar keratoderma and associated syndromes. In addition, therapeutic options are discussed. Exact diagnosis enables dermatologists to give patients accurate genetic counseling and may help to detect underlying defects or proneness to ...
Itin PH, Lautenschlager S
openaire   +4 more sources