Results 71 to 80 of about 5,336 (144)

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

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

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), Sanchez-Carpintero-Abad, I. (Ignacio), Idoate, M.A. (Miguel Ángel)   +2 more
core   +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

Heterozygous ASPRV1 frameshift variant in a Pembroke Welsh Corgi with ichthyosis

Animal Genetics, Volume 55, Issue 3, Page 490-492, June 2024.
Sarah Kiener, Susanne Åhman, Robert Cikota, Vidhya Jagannathan, Sohvi Blatter, Iva Cvitas, Sara Soto, Tosso Leeb   +7 more
wiley   +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
core   +1 more source

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
core   +1 more source

A frameshift variation in the DSP gene causes a novel subtype of atypical epidermolytic palmoplantar keratoderma: Case report

Frontiers in Medicine
Palmoplantar keratoderma (PPK) represents a heterogeneous group of disorders characterized by hyperkeratosis of the palms and soles. Epidermolytic palmoplantar keratoderma (EPPK) is typically caused by variations in KRT9 or KRT1 genes.
Chunli Lin, Huaqing Chen, Shuqin Lai, Shan Huang, Zimeng Guo, Lang Xie, Wei Zheng, Jingfa Lu, Zhaolin Zeng, Chunlei Wan, Longnian Li   +10 more
doaj   +1 more source