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  • 1
    Electronic Resource
    Electronic Resource
    A keratin 14 ‘knockout’ mutation in recessive epidermolysis bullosa simplex resulting in less severe disease (2000)
    Oxford, UK : Blackwell Publishing Ltd
    British journal of dermatology 143 (2000), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Epidermolysis bullosa simplex (EBS) is a blistering skin disease caused in most cases by mis-sense mutations in genes encoding the basal epidermal keratin (K) 5 and K14. The inheritance is usually autosomal dominant and the mutant keratin proteins appear to exert a dominant negative effect on the keratin intermediate filament cytoskeleton in basal keratinocytes. We report a child with a homozygous K14 mutation resulting in the complete absence of K14 protein in the epidermis; remarkably, he only had mild to moderate disease. Electron microscopy of a skin biopsy showed a marked reduction in numbers of keratin intermediate filaments in the basal keratinocytes. Immunofluorescence microscopy using monoclonal antibody LL001 against K14 showed no staining, suggesting a functional knockout of K14. Sequence analysis of genomic DNA revealed a homozygous mutation in codon 31 of K14 that resulted in a premature stop codon further downstream in exon 1. The child's mother, who is unaffected by the disease, is heterozygous for the mutation. The consanguineous father was unaffected and unavailable for testing. The resulting mRNA is predicted to encode a protein of 116 amino acids, of which the first 30 are identical to the normal K14 sequence, and the remaining 86 residues are mis-sense sequence. Four previously reported cases of autosomal recessive EBS with functional knockout of K14 were severely affected by blistering, in contrast to our patient in whom the predicted protein has only the first 30 amino acids of K14 and is therefore the closest to a true knockout of K14 protein yet identified.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2133.2000.03722.x
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  • 2
    Electronic Resource
    Electronic Resource
    Immunological Studies of herpes simplex virus infection in children with atopic eczema (1996)
    Oxford, UK : Blackwell Publishing Ltd
    British journal of dermatology 134 (1996), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary This study examines the role of immune defence mechanisms in herpes simplex virus (HSV) infections in atopic eczema and whether impairment of these mechanisms explains the susceptibility of some children with atopic eczema to cutaneous HSV infections. Ten children with eczema herpeticum and 13 with atopic eczema and recurrent HSV infection affecting multiple skin sites were studied, together with relevant control groups. In all children with atopic eczema, in vitro lymphoproliferation in response to stimulation with concanavalin A (Con A) was significantly decreased and natural killer (NK) cells (CD16 + 56) were reduced compared with non-atopic controls. IL-2 receptors, a marker for lymphocyte activation, were decreased during the acute phase of eczema herpeticum, and for 1 month thereafter. A positive stimulation index (〉3) to HSV antigen, and high HSV lgG antibody titres measured by ELISA. Western blotting and neutralization assay, were seen in children with eczema herpeticum by 6 weeks, and also in children with atopic eczema and recurrent HSV infections. No evidence of an HSV-specific immune defect (either cell-mediated or humoral) was found in atopic eczema. Impairment of cell-mediated immunity in atopic eczema and recurrent HSV infections. No evidence of an HSV-specific immune defect (either cell-mediated or humoral) was found in atopic eczema. Imairment of cell-mediated immunity in atopic eczema was suggested by the reduced response to Con A. It is likely that reduced numbers of circulating NK cells and a decrease in IL-2 receptors during early eczema herpeticum contribute to the susceptibility of children with atopic eczema to cutaneous HSV infections.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2133.1996.d01-731.x
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  • 3
    Electronic Resource
    Electronic Resource
    Skin microflora of atopic eczema in first time hospital attenders (1993)
    Oxford, UK : Blackwell Publishing Ltd
    Clinical and experimental dermatology 18 (1993), S. 0 
    Details
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: The bacterial flora of the skin was assessed quantitatively in 50 children with eczema, aged 6 months to 14 years, referred to the hospital for the first time. Twenty non-atopic controls with an unrelated non-infective disorder were also studied. Cotton-tipped swabs and contact agar discs were taken from the worst affected area of eczema and from an uninvolved site in patients and from the forearm in controls. Swabs were also taken from the nose, axilla and groin in all children.Bacterial colonization of the skin was consistently more common and greater in amount from patients compared with controls. Staphylococcus aureus was the most common pathogen isolated from patients only; from the worst affected area of eczema in 74% of patients and from an uninvolved skin site in 30% of patients. Quantitative assessment showed that the density of colonization was proportional to the severity of eczema. The most common S. aureus phage group was group II accounting for 32% of strains. Resistance to penicillin was present in 88% of strains and to two or more antibiotics in 38% of strains. No relationship was noted between the pattern of resistance and phage group.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2230.1993.tb02202.x
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    Paper (German National Licenses)
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