Results 61 to 70 of about 6,090 (177)

Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.

PLoS ONE, 2018
Ichthyosis Hystrix of Curth-Macklin (IH-CM) is a rare manifestation of epidermolytic ichthyosis (EI) that is characterised by generalised spiky or verrucous hyperkeratosis. The disorder is further distinguished by the presence of binucleated cells in the
Alessandro Terrinoni, Biagio Didona, Sabrina Caporali, Giovanni Chillemi, Alessandro Lo Surdo, Mauro Paradisi, Margherita Annichiarico-Petruzzelli, Eleonora Candi, Sergio Bernardini, Gerry Melino   +9 more
doaj   +1 more source

Cyclic Ichthyosis with Epidermolytic Hyperkeratosis: A Phenotype Conferred by Mutations in the 2B Domain of Keratin K1 [PDF]

, 1999
SummaryBullous congenital ichthyosiform erythroderma (BCIE) is characterized by blistering and erythroderma in infancy and by erythroderma and ichthyosis thereafter.
Weaver, Molly, Smith, Lynne T., Stephens, Karen, Sybert, Virginia P., Francis, Julie S., Corden, Laura D., McLean, W. H. Irwin   +6 more
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Quality of life in Swedish children with congenital ichthyosis

Dermatology Reports, 2010
Congenital ichthyosis encompasses a large group of keratinizing disorders with widespread scaling and a variable degree of erythema. Little is known about the quality of life in children with congenital ichthyosis and the impact of the disease on their ...
Agneta Gånemo
doaj   +1 more source

Epidermolytic hyperkeratosis with a rare digital contracture

Indian Journal of Dermatology, Venereology and Leprology, 2007
A sixteen year-old male patient with no history of consanguinity in the family, reported with patchy, thickened lichenified plaques over the whole body. Some areas had normal skin while some were Blaschkoid lesions. The child had delayed milestones along with hypogonadism. Digital contracture with palmoplantar keratoderma was present.
Sudip, Das, Alok Kumar, Roy, Chinmoy, Kar, Arunasis, Maiti   +3 more
openaire   +2 more sources

On keratin mutations in epidermolytic hyperkeratosis and the regulation of keratin expression by retinoids

, 2001
Epidermolytic hyperkeratosis is a rare inherited disease of the skin caused by a dominant-negative mutation in keratin 1 (K1) or 10 (K10). Keratins are the major structural protein in epidermis and mutations causes instability of intermediate filament ...
Virtanen, Marie
core   +2 more sources

Hiperqueratose palmo-plantar epidermolítica (Vörner) relato de caso e revisão da literatura Epidermolytic palmoplantar keratoderma (Vörner type) case report and revision of literature

Anais Brasileiros de Dermatologia, 2002
As queratodermias palmo-plantares familiares são doenças pouco comuns. As manifestações clínicas são variadas e exuberantes, atraindo a atenção dos dermatologistas.
Alexandre Bortoli Machado, Rafael Lenzi Tarnowsky, Roberto Moreira Amorim, Jorge José de Souza Filho, Marcelo Rigatti   +4 more
doaj   +1 more source

A Mouse Keratin 1 Mutation Causes Dark Skin and Epidermolytic Hyperkeratosis [PDF]

, 2006
Chemical mutagenesis in the mouse has increased the utility of phenotype-driven genetics as a means for studying different organ systems, developmental pathways, and pathologic processes. From a large-scale screen for dominant phenotypes in mice, a novel
McGowan, K.A., Kelly A. McGowan, Helmut Fuchs, de Angelis, Martin H., Hrabě de Angelis, M., Swaroop Aradhya, Fuchs, H., Aradhya, Swaroop, Fuchs, Helmut, Barsh, G.S., Gregory S. Barsh, Barsh, Gregory S., Martin H. de Angelis, McGowan, Kelly A., Aradhya, S.   +14 more
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Linkage of the Epidermolytic Hyperkeratosis Phenotype and the Region of the Type II Keratin Gene Cluster on Chromosome 12 [PDF]

, 1992
Bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis) is a severe, generalized, lifelong disease of the skin. As in epidermolysis bullosa simplex, intraepidermal blisters and clumping of keratin intermediate filaments are ...
Slater, Cathy A, Goldsmith, Lowell A, Epstein, Ervin H, Chen, Marisa A, Bonifas, Jeannette M, Lee, Ming K, Bare, John W   +6 more
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Coexistence of Acantholytic Dyskeratosis and Epidermolytic Hyperkeratosis in a Single Cutaneous Lesion: A Case Report and Brief Review

: Acantholytic dyskeratosis and epidermolytic hyperkeratosis are distinct histopathologic patterns reflecting abnormalities in keratinocyte differentiation. Although typically considered separate histopathologic reaction patterns, their
Manuel Sánchez-Arjona, Manuel Lecona, Luis Requena   +2 more
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A Case of Disseminated Epidermolytic Acanthoma

, 2007
Epidermolytic acanthoma is an uncommon benign tumor characterized histologically by epidermolytic hyperkeratosis. Clinically, the tumor resembles a verruca or seborrheic keratosis and may occur in either isolated or disseminated forms. Herein, we present
이민걸, 김대석, 김동현
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