Disease relevance of Hyperkeratosis, Epidermolytic

• Mutations in keratin genes expressed in skin lead to human disorders, including epidermolysis bullosa simplex and epidermolytic hyperkeratosis [1].
• The stratum corneum of individuals with ichthyosis vulgaris, sex-linked ichthyosis, lamellar ichthyosis, and epidermolytic hyperkeratosis has been studied [2].
• Keratin 9 mutation was examined in a Japanese kindred of epidermolytic palmoplantar keratoderma (EPPK), which is a dominantly inherited autosomal disorder of keratinization characterized by diffuse thickening of the palms and soles and by epidermolytic hyperkeratosis histologically [3].
• A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma [4].
• Mannose-containing of glycoproteins from lesional tissue of several diseases of aberrant epidermal differentiation (palmar-plantar keratoderma, pachyonychia congenita, psoriasis, and epidermolytic hyperkeratosis) were analyzed by overlaying iodinated concanavalin A onto molecules separated by polyacrylamide gel electrophoresis [5].

High impact information on Hyperkeratosis, Epidermolytic

• In the offspring with epidermolytic hyperkeratosis, the same mutations as those in the parents were found in 50 percent of the K10 alleles from all cell types examined [6].
• We studied the K1 and K10 genes in blood and in the keratinocytes and fibroblasts of lesional and nonlesional skin from three patients with epidermal nevi and four of their offspring with epidermolytic hyperkeratosis [6].
• Skin fragility in keratin 10 knockout mice and in epidermolytic hyperkeratosis is probably the consequence of two complementing mechanisms namely a decrease of normal keratin 1/10 filaments and an increase in keratins 6/16 with a poor filament-forming capacity [7].
• A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis [8].
• In this study, we report two novel frameshift mutations that are predicted to alter the tail of keratin 1 or keratin 5, leading to an atypical form of epidermolytic hyperkeratosis and a mild form of epidermolysis bullosa simplex, respectively [9].

Chemical compound and disease context of Hyperkeratosis, Epidermolytic

• We report a mutation in a case of epidermolytic hyperkeratosis that results in a proline for alanine substitution in the residue position 12 of the 1A subdomain of the keratin 10 chain (codon 158) [10].
• We report a mutation in a mild case of epidermolytic hyperkeratosis that results in a glutamic acid to aspartic acid substitution in a novel location, codon 477 or position 106 of the 2B rod domain of the keratin 1 chain [11].
• A novel leucine to valine mutation in residue 7 of the helix initiation motif of keratin10 leads to bullous congenital ichthyosiform erythroderma [12].
• A boy with epidermolytic hyperkeratosis was treated systemically for 4 1/2 years with 13-cis-retinoic acid [13].
• An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis [14].

Biological context of Hyperkeratosis, Epidermolytic

• Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12 [15].
• We and others have used genetic linkage studies and mutation analysis to establish that single amino acid substitutions in either the keratin 1 or keratin 10 chains can cause epidermolytic hyperkeratosis [16].
• Mutations in the keratin K1 gene (KRT1) have been shown to underlie a variety of phenotypes typically involving generalized epidermolytic hyperkeratosis, but in some cases the phenotype can be more regionally restricted [17].
• A sporadic case of epidermolytic hyperkeratosis caused by a novel point mutation in the keratin 1 gene [18].

Anatomical context of Hyperkeratosis, Epidermolytic

• Histologic examination showed the typical pathology of epidermolytic hyperkeratosis, and ultrastructural analysis revealed abnormal keratin filament networks and tonofilament clumping with a perinuclear distribution [19].

Gene context of Hyperkeratosis, Epidermolytic

• A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis [20].
• Epidermolytic hyperkeratosis is a rare autosomal dominant inherited skin disorder caused by keratin 1 or keratin 10 mutations [21].
• Defective interaction between keratin and filaggrin is seen in epidermolytic hyperkeratosis [22].
• Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis [23].
• The clumped keratin in bullous congenital ichthyosiform erythroderma that was not properly compacted with filaggrin was poorly positive to the antibody against deiminated mouse K1 peptide [24].

Analytical, diagnostic and therapeutic context of Hyperkeratosis, Epidermolytic

• Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis [25].

References