Results 91 to 100 of about 4,905 (212)

Disruption of tuftelin 1, a desmosome associated protein, causes skin fragility, woolly hair and palmoplantar keratoderma [PDF]

, 2023
Desmosomes are dynamic complex protein structures involved in cellular adhesion. Disruption of these structures by loss of function variants in desmosomal genes lead to a variety of skin and heart related phenotypes.
Kramer, Duco, Hoes, Martijn F, Verlouw, Joost AM, Slotman, Johan A, Uitterlinden, André G, Schouten, Marloes, van den Akker, Peter C, Bremer, Jeroen, Saris, Jasper, Oberdorf-Maass, Silke, Vermeer, Mathilde CSC, Romero-Herrera, Pedro H, Verkerk, Annemieke JMH, Andrei, Daniela, Meijer, Hillegonda J, van den Ouweland, Ans MW, Hoogeboom, A Jeannette M, Silljé, Herman HW, Dean, M Christopher, Nijenhuis, Miranda, Diercks, Gilles FH, Pas, Hendri H, Hublin, Jean-Jacques, Stoop, Hans, Giepmans, Ben NG, van der Molen, Marije, Bolling, Maria C, Willemsen, Rob, Arp, Pascal, van der Meer, Peter   +29 more
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Clinical and genetic characterisation of palmoplantar keratoderma

Palmoplantar keratodermi er en tilstand kendetegnet ved hård og fortykket hud på håndflader og fodsåler. Ud over de ofte iøjnefaldende hudforandringer, kan sygdommen også ledsages af både smerter, sved- og lugtgener.
Gram, Stine Bjørn; id_orcid
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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
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Zinser–Engmann–Cole syndrome: Two case report

Indian Journal of Paediatric Dermatology, 2019
We report two cases of dyskeratosis congenita. Case 1: An 11-year-old male child presented to us with severe anemia and pancytopenia resulting in cardiac failure, in addition to the classical clinical triad including skin atrophy with mottled ...
Bangaru Hanumaiah, Sathish Shankar, Nanjunda Swamy B Lingaiah   +2 more
doaj   +1 more source

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

, 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 ...
Wilson, N. J., Leitch, C., Mackenzie, A., Sobey, G., Smith, F. J. D., Zamiri, M.   +5 more
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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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Cutaneous adverse events associated with BRAF and MEK inhibitors: a systematic review and meta-analysis

Frontiers in Pharmacology
AimCutaneous adverse events (CAEs) after treatment with BRAF and MEK inhibitors in patients with melanoma remain incompletely characterized. To determine the association of BRAF and MEK inhibitor treatment with CAEs in patients with melanoma compared ...
Junhui Qian, Jinlong Wan, Qin Yao, Yin Chen, Tao Ling, Yuejuan Zhang, Zhihua Tang   +6 more
doaj   +1 more source

Ultrastructural Changes Resulting from Keratin-9 Gene Mutations in Two Families with Epidermolytic Palmoplantar Keratoderma

, 1995
Palmoplantar keratodenna of Voerner type (or epidermolytic palmoplantar keratoderma) is an autosoml dominant inherited disorder of keratinization with histologic features of epidermolytic hyperkeratosis, We studied members of two large unrelated kindreds
Leigh, Irene M., Ratnavel, Ravi C., Eady, Robin A.J., Griffiths, D., Birgitte Lane, E., Shamsher, Monee, Andrew, W., Swensson, O.l.e., Navsaria, Harshad A., Irwin McLean, W.H.   +9 more
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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