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. +12 more
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Keratins in Skin Epidermal Development and Diseases [PDF]
, 2018 Epidermal keratinocyte (KC), the major cell type in the skin epidermis, plays critical roles in forming a permeability barrier to separate internal organs from external stimuli.
Zhang, Ling-juan
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, 2023 [EN]The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can be inherited or acquired, and result in defective keratinocyte differentiation and abnormal epidermal barrier formation.
Akiyama, Masashi +6 more
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Life-threatening dermatoses in neonates and newborns [PDF]
, 2018 The differentiation of life-threatening dermatoses in newborn is of utmost importance. Infectious diseases, developmental defects and complicated genodermatoses are among the most important causes.
Broshtilova, Valentina +4 more
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Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs [PDF]
, 2005 Background Epidermolytic hyperkeratosis in humans is caused by dominant-negative mutations in suprabasal epidermal keratins 1 and 10. However, spontaneous keratin mutations have not been confirmed in a species other than human.
Barnhart, K. F. +3 more
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Neonatal Skin Disorders: A Review of Selected Dermatologic Abnormalities
, 2000 The skin serves many purposes, acting as a barrier to infection, protecting internal organs, contributing to temperature regulation, storing insulating fats, excreting electrolytes and water, and providing tactile sensory input. This article focuses on a
Banta-Wright, Sandra, Campbell, Juliana
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A novel keratin 5 mutation in an African family with epidermolysis bullosa simplex Iidicates the Importance of the amino acid located at the boundary site between the H1 and coil 1A domains [PDF]
, 2013 No abstractThis work was supported in part by Grant-in-Aid for Research Activity Start-up (to S. S.; 23890006) from the Ministry of Education, Culture, Sports, Science and Technology of Japan and by “Research on Measures for Intractable Diseases ...
Akiyama, Masashi +7 more
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The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases
Acta Dermato-VenereologicaInherited ichthyosis comprises a spectrum of genetic disorders related to over 50 pathogenic genes. However, there are limited data summarizing the clinical and molecular characteristics of Chinese patients.
Ruiyu Xiang +7 more
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Superficial epidermolytic ichthyosis: A rare disorder with the unusual absence of blistering
Nasza Dermatologia Online, 2022 Superficial epidermolytic ichthyosis (SEI), formerly known as ichthyosis bullosa of Siemens (IBS), is an extremely rare keratinization disorder with superficial peeling, with an estimated prevalence of 1:500,000, caused by a variety of mutations in the ...
Ashwani Rana, Prajul Mehta
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Örökletes és immunológiai bőrgyógyászati kórképek epidemiológiai és molekuláris genetikai vizsgálata = Epidemiological and molecular genetic study of the inherited and immunodermatological diseases [PDF]
, 2009 Örökletes bőrgyógyászati megbetegedések: A genetikai hátterű bőrgyógyászati betegségek között kiemelt jelentőségű az epidermolysis bullosa (EB) csoport.
Medvecz, Márta
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