Skin fragility caused by biallelic KRT10 mutations: an intriguing form of self-improving epidermolytic ichthyosis.

This article is protected by copyright. All rights reserved. PMID: 31278741 [PubMed - as supplied by publisher]
Source: The British Journal of Dermatology - Category: Dermatology Authors: Tags: Br J Dermatol Source Type: research

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CONCLUSION:  The diagnosis of intravesical condylomata acuminata requires stringent urologic follow-up examinations including biopsy of suspicious lesions and stage-appropriate surgical management in the case of an invasive carcinoma. PMID: 31940665 [PubMed - as supplied by publisher]
Source: Aktuelle Urologie - Category: Urology & Nephrology Authors: Tags: Aktuelle Urol Source Type: research
The corneocyte lipid envelope, composed of covalently bound ceramides and fatty acids, is important to the integrity of the permeability barrier in the stratum corneum, and its absence is a prime structural defect in various skin diseases associated with defective skin barrier function. SDR9C7 encodes a short-chain dehydrogenase/reductase family 9C member 7 (SDR9C7) recently found mutated in ichthyosis. In a patient with SDR9C7 mutation and a mouse Sdr9c7 knockout model, we show loss of covalent binding of epidermal ceramides to protein, a structural fault in the barrier. For reasons unresolved, protein binding requires li...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
Jagannath, whose second name is unknown, is forced to lather himself in moisturiser every three hours because his skin is so painfully dry. He suffers from lamellar ichthyosis.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
by Yiwen Wang, Michaela Norum, Kathrin Oehl, Yang Yang, Renata Zuber, Jing Yang, Jean-Pierre Farine, Nicole Gehring, Matthias Fl ötenmeyer, Jean-François Ferveur, Bernard Moussian Prevention of desiccation is a constant challenge for terrestrial organisms. Land insects have an extracellular coat, the cuticle, that plays a major role in protection against exaggerated water loss. Here, we report that the ABC transporter Oskyddad (Osy)—a human ABCA12 paralog—contributes to the waterproof barrier function of the cuticle in the fruit flyDrosophila melanogaster. We show that the reduction or elimination ...
Source: PLoS Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
Kiran A Kale, Nitin P Ghonge, Anita KaulIndian Journal of Radiology and Imaging 2019 29(4):448-451 Most of the fetal deformities are caused due to genetic abnormalities. Although magnetic resonance imaging (MRI) may be used to accurately diagnose these deformities, it has been reported that gene analysis is a more accurate diagnostic method. Harlequin ichthyosis (HI) or Ichthyosis fetalis (IF) is a rare and extremely severe hereditary skin disorder with autosomal recessive inheritance. The ultrasound features have been described well and the diagnosis can be made with a fair degree of confidence. However, the final diagno...
Source: Indian Journal of Radiology and Imaging - Category: Radiology Authors: Source Type: research
The average human body is estimated to comprise 37.2 trillion cells [1], and during the transformation from a single fertilized egg into an adult human, each cell inevitably accumulates numerous genetic and/or genomic alterations by multiple factors, including intrinsic DNA replication errors and environmental DNA insults [2,3]. In principle, these alterations can occur at any time point after the first zygotic division [3]. Therefore, mosaicism, the occurrence of more than one genetically diverse cell population in an organism arising from a single fertilized egg, is a natural condition —rather than exception&...
Source: Journal of Dermatological Science - Category: Dermatology Authors: Tags: Invited Review Article Source Type: research
ConclusionOur findings not only broaden the mutational spectrum of PNPLA1, but also contribute to establishing genotype –phenotype correlations for different forms of ARCI.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
WARNING, GRAPHIC IMAGES: Michal Winter, from Derby, has harlequin ichthyosis which causes plates of thick dry skin. His mother said strangers are surprised to see he is a real boy when he moves.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
NIPAL4, the gene encoding the NIPA-like domain containing 4 protein (NIPAL4), is one of the causative genes of autosomal recessive congenital ichthyosis (ARCI) [1]. The physiological role of NIPAL4 and the pathogenetic mechanisms of ARCI caused by NIPAL4 mutations remain unclear, although some recent studies have indicated that NIPAL4 may be a putative Mg2+ transporter [2,3] and that loss-of-function of NIPAL4 might lead to a failure of differentiation-dependent gene expression in keratinocytes, resulting in a defective acylceramide synthesis by keratinocytes [3].
Source: Journal of Dermatological Science - Category: Dermatology Authors: Source Type: research
Conclusion: Through the case study, it is affirmed that implementation of the Nursing Process, especially the care plan, was essential for the multidisciplinary success of the treatment. There was improvement in the skin and mucous membranes, as well as prevention of infections, culminating in favorable survival conditions and the autonomy of parents for home care.
Source: Revista da Escola de Enfermagem da USP - Category: Nursing Source Type: research
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