Results 41 to 50 of about 1,914 (209)

Disseminated epidermolytic acanthoma probably related to trauma [PDF]

, 1999
Epidermolytic acanthoma is a rare benign tumour, which may occur in both isolated and disseminated forms. Only seven cases of disseminated epidermolytic acanthoma (DEA) have been described. This entity should be distinguished from other
España, A. (Agustín), Idoate, M.A. (Miguel Ángel), Sanchez-Carpintero-Abad, I. (Ignacio)   +2 more
core   +1 more source

Bilateral systematized epidermolytic verrucous epidermal nevus: A rare entity

Indian Journal of Dermatology, 2015
Verrucous epidermal nevi are congenital, noninflammatory cutaneous hamartomas composed of keratinocytes. They follow the lines of Blaschko and show hyperkeratosis without cellular atypia.
Vivek Mishra, Abanti Saha, Debabrata Bandyopadhyay, Anirban Das   +3 more
doaj   +1 more source

Ichthyoses—A Clinical and Pathological Spectrum from Heterogeneous Cornification Disorders to Inflammation

Dermatopathology, 2021
Ichthyoses are inborn keratinization disorders affecting the skin only (non-syndromic) or are associated with diseases of internal organs (syndromic). In newborns, they can be life-threatening.
Dieter Metze, Heiko Traupe, Kira Süßmuth   +2 more
doaj   +1 more source

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis [PDF]

, 2016
Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform erythroderma) were studied.
Betz, Regina C., Blume-Peytavi, Ulrike, Bourrat, Emmanuelle, Fischer, Judith, Hotz, Alrun, Jonca, Nathalie, Markus, Susanne, Mazereeuw-Hautier, Juliette, Morice-Picard, Fanny, Oji, Vmzenz, Schlipf, Nina, Schoenbuchner, Ines, Stieler, Karola   +12 more
core   +3 more sources

Intragenic PNPLA1 duplication in Labrador retrievers with nonepidermolytic ichthyosis. [PDF]

Vet Dermatol
Background – Ichthyoses represent a heterogeneous group of cornification disorders characterised by epidermal scaling. Objectives – To describe the clinical, histopathological and genetic analysis of a Labrador retriever with nonepidermolytic ichthyosis, and the results of a Labrador retriever population screening for a newly detected PNPLA1 genomic ...
Rietmann SJ, Clegg JL, Jagannathan V, Wiener DJ, Kallenberg A, Grahn RA, Souza CP, Leeb T.   +7 more
europepmc   +2 more sources

Transgenic models of skin diseases [PDF]

, 1993
Background: Transgenic animals have greatly enhanced our understanding of the contribution of various structural and regulatory components to epidermal biology. The expression of mutant versions of these components in the epidermis of transgenic mice has
Bickenbach, Jackie R., Dominey, Andrea M., Greenhalgh, David A., Roop, Dennis R., Rothnagel, Joseph A., Sellheyer, Klaus, Wang, Xiao-Jing   +6 more
core   +1 more source

Heterozygous ASPRV1 frameshift variant in a Pembroke Welsh Corgi with ichthyosis. [PDF]

Animal Genetics, Volume 55, Issue 3, Page 490-492, June 2024.
Blatter, Sohvi, Cikota, Robert, Cvitas, Iva, Jagannathan, Vidhya, Kiener, Sarah, Leeb, Tosso, Soto, Sara, Åhman, Susanne   +7 more
core   +2 more sources

Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms [PDF]

, 2015
Research on iRHOM2 in the Kelsell group is funded by an MRC project grant, a MRC Clinical Fellowship (to TM) and a Cancer Research UK program ...
A Ellis, AB Varela, AE Field, Anthony Ellis, C Adrain, C Scott, CA Souza De, CR Leemans, David P. Kelsell, DC Blaydon, DC Blaydon, DP Kelsell, H Smart, HC Hennies, HP Stevens, Janet M. Risk, L Hong, M Knöbel, M Zettl, MA Brooke, MA Brooke, MT Ashworth, PH Itin, PS Harper, S Saarinen, T Maruthappu, Thiviyani Maruthappu, W Howel-Evans, WR Tyldesley   +28 more
core   +1 more source

Systematized linear epidermolytic hyperkeratosis [PDF]

Dermatology Online Journal, 2014
A 5-year-old boy presented with widespread asymptomatic hyperpigmented verrucous plaques since 3 months of age. The lesions were distributed in a linear manner along Blaschko's lines on trunk and extremities and were accentuated in flexures and around joints.
Kumar, Piyush, Kumar, Rajesh, Mandal, Rajesh Kumar, Hassan, Shahid   +3 more
openaire   +4 more sources

A keratin scaffold regulates epidermal barrier formation, mitochondrial lipid composition, and activity. [PDF]

, 2015
Keratin intermediate filaments (KIFs) protect the epidermis against mechanical force, support strong adhesion, help barrier formation, and regulate growth.
Adams, Alam, Alvarado, Arin, Baris, Bianchi, Bligh, Bunick, Bär, Böttinger, Candi, Candi, Capetanaki, Chan, Chernoivanenko, Christina B. Brazel, Chung, Coulombe, Coulombe, Crowe, Dennis R. Roop, Duan, Egberts, Ellis, Epand, Fessing, Fontanesi, Fuchs, Fuchs, Gendronneau, Geng, Habtezion, Haines, Hamanaka, Hans Binder, Hardman, Helenius, Henry Löffler-Wirth, Herrmann, Hesse, Hoefs, Homberg, Homberg, Hornig-Do, Hoste, Hue-Tran Hornig-Do, Huebner, Jamal-Eddine Bouameur, Janina Bär, Jaquemar, Jarnik, Jayaprakash, Kalinin, Kato, Kawasaki, Kerns, Kim, Kim, Kloepper, Koch, Kröger, Kröger, Kuramoto, Kypriotou, Laatsch, Lane, Langbein, Lessard, Lim, Loschke, Macdiarmid, Magin, Matsui, Matsuki, McAleer, Mor-Vaknin, Nakamichi, Nestle, Nicole Schwarz, Nishizawa, Norlén, Oji, Owens, Palmer, Panjwani, Paradies, Peter Seibel, Preethi Vijayaraj, Quigley, Reichelt, Reichelt, Reichelt, Rice, Rice, Rice, Robert H. Rice, Roop, Rorke, Roth, Roth, Rowland, Rudolf E. Leube, Rudolf J. Wiesner, Sabharwal, Sakaguchi, Samuelov, Samuelov, Sandilands, Sandra Heller, Schmuth, Schweizer, Schäfer, Schäfer, Segre, Segre, Seltmann, Seltmann, Seltmann, Sevilla, Signorelli, Simpson, Singla, Smith, Susanne Brodesser, Szeverenyi, Sören Thiering, Takahashi, Tamai, Tao, Tasseva, Tatsuta, Thomas M. Magin, Vijayaraj, Vijayaraj, Vinod Kumar, Wallace, Watt, Yao, Yu, Zeeuwen, Özbalci   +140 more
core   +1 more source