Results 41 to 50 of about 5,312 (130)

Report of an autosomal recessive epidermolytic ichthyosis

Indian Journal of Paediatric Dermatology, 2020
Epidermolytic ichthyosis (EI) previously named bullous congenital ichthyosiform erythroderma of Brocq or epidermolytic hyperkeratosis (mostly considered as a histological term now) is rare with a variable defect of cornification, clinically characterized
K S Chandan, S R Ashitha, Sachin Somashekhar, L Shishira   +3 more
doaj   +1 more source

A novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis [PDF]

Molecular Genetics & Genomic Medicine, 2013
Jeffrey C. Murray, Jeydith Gutiérrez, Martine Dunnwald   +2 more
exaly   +2 more sources

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

Generalized epidermolytic ichthyosis with palmoplantar hyperkeratosis [PDF]

, 2021
Epidermolytic ichthyosis (EI, OMIM 113800) is a rare autosomal dominant keratinization disorder that is caused by keratin 1 or 10 gene mutation. It can be classified clinically based on the presence of palmoplantar hyperkeratosis involvement and extent ...
Radiono, Sunardi, Danarti, Retno, Putra, Prasta Bayu   +2 more
core   +1 more source

Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds

Veterinary Sciences, 2022
The plasticity of the genome is an evolutionary factor in all animal species, including canines, but it can also be the origin of diseases caused by hereditary genetic mutation.
Pablo Jesús Marín-García, Lola Llobat
doaj   +1 more source

Coxsackie Eruption Arising in Areas of Epidermolytic Ichthyosis

, 2015
Coxsackie eruptions concentrated in areas of atopic dermatitis, a phenomenon termed eczema coxsackium, has been well described in the literature but, to our knowledge, the concentration of coxsackie viral lesions to areas of ichthyosis has not been ...
Rico, Tace, Lewis, Suzanna
core   +2 more sources

A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma [PDF]

, 1997
Annular epidermolytic ichthyosis has recently been delineated as a distinct clinical phenotype within the spectrum of epidermolytic keratinization disorders.
Traupe, H., Rothnagel, J. A., Roop, Dennis R., Joh, Gwang-Yeol, Nashan, D., Metze, Dieter, Huber, M., Traupe, H., Huber, M., Metze, D., Nashan, D., Traupe, Heiko, Longley, Mary A., Metze, D., Roop, D. R., Roop, D. R., Rothnagel, Joseph A., Longley, M. A., Hohl, D., Nashan, Dorothée, Joh, G. Y., Huber, Marcel, Rothnagel, J. A., Joh, G. Y., Hohl, D., Hohl, Daniel, Longley, M. A.   +26 more
core   +1 more source

Revised nomenclature and classification of inherited ichthyoses:Results of the First Ichthyosis Consensus Conference in Sorze 2009 [PDF]

, 2010
Background: Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification, typically involving the entire integument.
Mary Williams, Jacyk, Witold Kamil, Matthias Schmuth, Pierre Vabres, Vabres, P., Oji, V., Jacyk, Witold K, Elias, Peter, Toro, J.R., Akiyama, M., Taieb, A., Irene Leigh, Leonard Milstone, Jacyk, W.K., Blanchet, Bardon C., Harper, John I., Bodemer, Christine, John Harper, Eli Sprecher, Maurice Van Steensel, Bodemer, C., Tadini, G., Ishida-Yamamoto, Akemi, Hausser, I., Harper, John, Amy S. Paller, Akiyama, Masashi, Schmuth, M., Shimizu, Hiroshi, Richard, Gabriele, Richard, G., Milstone, Leonard, Traupe, H., Vahlquist, A., Sprecher, Eli, Hashimoto, T., Bourrat, E., Elias, P., Judith Fischer, Bardon, Claudine Blanchet, Elias, Peter M., Fleckman, Philip, Tadini, Gianluca, Morice-Picard, Fanny, Ishida-Yamamoto, A., Hovnanian, A., Shimizu, H., Akemi Ishida-Yamamoto, Philip Fleckman, Schmuth, Mathias, Jacyk, Witold K., Vabres, Pierre, Jorge R. Toro, Peter Elias, Coudiere, P., Coudiere, Philippe, Hohl, D., Bourrat, Emmanuelle, Leachman, S., Daniel Hohl, Leachman, Sancy, Alain Taïeb, Digiovanna, John J., John J. DiGiovanna, Vahlquist, Anders, Hans Christian Hennies, Hohl, Daniel, Hashimoto, Takashi, Taïeb, Alain, Van, Steensel M., Hennies, Hans C., Leigh, Irene, Michal Gina, Sprecher, E., Hovnanian, Alain, Juliette Mazereeuw-Hautier, Fischer, Judith, Christine Bodemer, Vinzenz Oji, Anders Vahlquist, Milstone, L., Witold K. Jacyk, Gina, M., Fleckman, P., Williams, M., Schmuth, Matthias, Mazereeuw-Hautier, J., Richard, Gabrielle, Paller, Amy S., Gabriele Richard, Heiko Traupe, DiGiovanna, John J, Toro, Jorge R, Ingrid Hausser, Blanchet Bardon, Claudine, Masashi Akiyama, Toro, Jorge R., DiGiovanna, J.J., Claudine Blanchet Bardon, Emmanuelle Bourrat, Hiroshi Shimizu, Gina, Michal, Gianluca Tadini, Milstone, Leonard M., Harper, J., Mazereeuw-Hautier, Juliette, Traupe, Heiko, Morice-Picard, F., Takashi Hashimoto, van Steensel, Maurice, Philippe Coudiere, Paller, Amy S, Hausser, Ingrid, Paller, A.S., Fanny Morice-Picard, Sancy Leachman, Oji, Vinzenz, Vahlquist, Anders,, Fischer, J., Leigh, I., Alain Hovnanian, Hennies, Hans Christian, Williams, Mary, Van Steensel, M., Zúñiga-Espitia, Iván Darío, Satizábal Soto, José María, Moreno Giraldo, Lina Johanna, Hennies, H.C., Blanchet Bardon, C.   +128 more
core   +1 more source

Recurrent KRT10 Variant in Ichthyosis with Confetti

Acta Dermato-Venereologica, 2020
is missing (Short communication)
Takuya Takeichi, Yasushi Suga, Takashi Mizuno, Yusuke Okuno, Daisuke Ichikawa, Michihiro Kono, John Y.W. Lee, John A. McGrath, Masashi Akiyama   +8 more
doaj   +1 more source

Visualization of Keratin with Diffuse Reflectance and Autofluorescence Imaging and Nonlinear Optical Microscopy in a Rare Keratinopathic Ichthyosis

Sensors, 2021
Keratins are one of the main fluorophores of the skin. Keratinization disorders can lead to alterations in the optical properties of the skin. We set out to investigate a rare form of keratinopathic ichthyosis caused by KRT1 mutation with two different ...
Pálma Anker, Luca Fésűs, Norbert Kiss, Judit Noll, Krisztina Becker, Enikő Kuroli, Balázs Mayer, Szabolcs Bozsányi, Kende Lőrincz, Ilze Lihacova, Alexey Lihachev, Marta Lange, Norbert Wikonkál, Márta Medvecz   +13 more
doaj   +1 more source