Ichthyosen : Pathophysiologische Modelle der epidermalen Differenzierung [The ichthyoses : Pathophysiological models of epidermal differentiation]. [PDF]
, 2013 The ichthyoses are a heterogeneous group of monogenetically inherited disorders of cornification, and characterized clinically by scaling or hyperkeratosis. Historically, they were classified by clinical features and inheritance patterns.
Hohl, D., Huber, M.
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Two cases of ichthyosis and their EPR analyses of stratum corneum
Journal of Cutaneous Immunology and Allergy, 2019 Dear Editor, Ichthyosis is an inherited skin disorder characterized by generalized scaling and hyperkeratosis. Lamellar ichthyosis (LI) (OMIM number 242100) has been named “ichthyosis congenita type II” by the Heidelberg group on the basis of electron ...
S. Minakawa +6 more
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In vitro and in vivo analysis of differential gene expression between normal norfolk terrier dogs and those with an autosomal recessive mutation in KRT10 [PDF]
, 2005 Natural diseases caused by keratin mutations are rare and have only been reported in humans. We have recently identified a heritable skin disorder in Norfolk terriers caused by a mutation in KRT10.
Barnhart, Kirstin Faye
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Genetic analysis of genodermatoses [PDF]
The skin is the largest organ of the body. It provides a barrier that protects the body from harmful environmental factors as well as from a loss of fluids.
Bauer, Anina Estrella
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Generalized and naevoid epidermolytic ichthyosis in Denmark: clinical and mutational findings.
Acta Dermato-Venereologica, 2013 A Danish-Swedish collaboration was established to identify and classify a Danish cohort of patients with epidermolytic ichthyosis, also known as epidermolytic hyperkeratosis.
A. Bygum +6 more
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First successful treatment of epidermolytic Ichthyosis with Vunakizumab: A Case Report [PDF]
Ichthyoses, a group of skin cornification disorders caused by protein and lipid abnormalities that disrupt epidermal functions, are mainly characterized by generalized scaling.
Chaolan Pan +23 more
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Missense Variant c.3301C>T (p.R1101W) in von Willebrand Factor A Sequence in a Patient with Recessive Dystrophic Epidermolysis Bullosa Pruriginosa with Compound Heterozygous COL7A1 Variants. [PDF]
Ann Dermatol, 2023 Kwon HJ, Yoo DW, Yoon JH, Kim N, Kim KH.
europepmc +1 more source
Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2. [PDF]
Int J Mol Sci, 2022 Suzuki Y +6 more
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Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis. [PDF]
Ital J Pediatr, 2022 Serra G +7 more
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The role of MBTPS2 in epidermal proliferation and differentiation - [PDF]
, 2015 Thesis. M.Sc. American University of Beirut. Department of Biochemistry and Molecular Genetics. Faculty of Medicine 2015. W 4 B193r 2015Advisor: Dr. Mazen Kurban, Associate Professor, Department of Biochemistry and Molecular Genetics.
Ballout, Farah Rabih,
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