Results 51 to 60 of about 6,090 (177)

Splice Site and Deletion Mutations in Keratin (KRT1 and KRT10) Genes: Unusual Phenotypic Alterations in Scandinavian Patients with Epidermolytic Hyperkeratosis [PDF]

, 2003
Epidermolytic hyperkeratosis is a rare autosomal dominant inherited skin disorder caused by keratin 1 or keratin 10 mutations. Keratins are major structural proteins of the epidermis, and in keratinocytes committed to terminal differentiation the ...
Smith, Susan Kaye, Gedde-Dahl, Tobias, Gedde-Dahl Jr, Tobias, Kaye Smith, S., Vahlquist, Anders, Bowden, Paul Edward, Virtanen, Marie, Bowden, Paul E.   +7 more
core   +1 more source

Bullous Congenitalichthyosiform Erythroderma - PS 1 Type

Indian Journal of Dermatology, 2003
We describe a case of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis) with severe transgradient type of palmoplantar keratoderma. It occurred in a thirty year old man, who was born out of first degree consanguineous marriage.
Dave Shriya, Rakhesh S. V, Thappa Devinder Mohan   +2 more
doaj  

Epidermal reaction patterns

Indian Journal of Dermatopathology and Diagnostic Dermatology, 2015
Changes in the epidermis serve as important histopathological clues to the diagnosis of skin disorders. These peculiar changes are referred to as epidermal reaction patterns.
Aanchal Panth, M Ramam
doaj   +1 more source

Epidermolytic Ichthyosis Sine Epidermolysis [PDF]

, 2017
Epidermolytic ichthyosis (EI) is a rare disorder of cornification caused by mutations in KRT1 and KRT10, encoding two suprabasal epidermal keratins. Because of the variable clinical features and severity of the disease, histopathology is often required ...
Eskin-Schwartz, Marina, Natalia Malchin, Gat, Andrea, Sprecher, Eli, Marianna Drozhdina, Ofer Sarig, Shomron, Noam, Thomas Ruzicka, Green, Kathleen J., Kathleen J. Green, Tomer Jackman, Sergei Koshkin, Jackman, Tomer, Sarig, Ofer, Hovnanian, Alain, Andrea Gat, Noam Shomron, Marina Eskin-Schwartz, Dan Vodo, Drozhdina, Marianna, Ofer Isakov, Isakov, Ofer, Samuelov, Liat, Malchin, Natalia, Alon Peled, Jennifer L. Koetsier, Liat Samuelov, Eli Sprecher, Vodo, Dan, Koetsier, Jennifer L., Koshkin, Sergei, Harmon, Robert M., Robert M. Harmon, Paller, Amy S., Peled, Alon, Alain Hovnanian, Amy S. Paller, Ruzicka, Thomas   +37 more
core   +1 more source

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis

Italian Journal of Pediatrics, 2022
Background Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma.
Gregorio Serra, Luigi Memo, Paola Cavicchioli, Mario Cutrone, Mario Giuffrè, Maria Laura La Torre, Ingrid Anne Mandy Schierz, Giovanni Corsello   +7 more
doaj   +1 more source

Incidental Cutaneous Reaction Patterns: Epidermolytic Hyperkeratosis, Acantholytic Dyskeratosis, and Hailey-Hailey-Like Acantholysis: A Potential Marker of Premalignant Skin Change

Journal of Skin Cancer, 2011
Focal acantholytic dyskeratosis (FAD), epidermolytic hyperkeratosis (EHK), and Hailey-Hailey-like acantholysis (HH) represent unique histology reaction patterns, which can be associated with defined phenotypic and genotypic alterations.
Erich M. Gaertner
doaj   +1 more source

Epidermolytic hyperkeratosis a histological hallmark in the diagnosis of bullous ichthyosiform erythroderma

, 2016
Bullous ichthyosiform erythroderma is an uncommon form childhood keratinizing disorder. Early in life it is associated with generalized blistering and erythroderma. Later on it produces rippled type of hyperkeratosis. The diagnosis is confirmed by a very
Zafar Iqbal Sheikh, Asher Ahmed Mashhood, Nadia Iftikhar   +2 more
core   +1 more source

A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma [PDF]

, 2020
We report a 6-year-old girl showing epidermolytic ichthyosis/epidermolytic hyperkeratosis (EI/EH). Targeted Next Generation Sequencing revealed a de novo, previously unidentified KRT1 mutation.
Schepis, Carmelo, Failla, Pinella, Siragusa, Maddalena, Calì, Francesco, Vinci, Mirella   +4 more
core   +1 more source

Mutations of Keratin 9 in Two Families with Palmoplantar Epidermolytic Hyperkeratosis [PDF]

, 1994
The hereditary palmoplantar keratodermas are a heterogeneous group of diseases unified by thickening of the stratum corneum of the palms and soles with consequent painful fissuring, discomfort on pressure, and resultant disability.
Zloczower, Michael, Hutchinson, Peter E, Matsumura, Kunie, Epstein, Ervin H, Chen, Marisa A, Berth-Jones, John, Bonifas, Jeannette M, Fritsch, Peter O   +7 more
core   +1 more source

Uncommon Endoscopic Findings in a Tylosis Patient: A Case Report

Case Reports in Oncology, 2019
Palmoplantar tylosis is a focal non epidermolytic palmoplantar hyperkeratosis and is associated with a very high lifetime risk of developing squamous cell carcinoma of the esophagus (OSCC).
Balarama K. Surapaneni, Pragnan Kancharla, R. Vinayek, Sudhir K. Dutta, Mendel Goldfinger   +4 more
doaj   +1 more source