X-linked and autosomal dominant forms of the ichthyosis in coinheritance

Journal Name: Drug Metabolism and Personalized Therapy Issue: Ahead of print
Source: Drug Metabolism and Personalized Therapy - Category: Drugs & Pharmacology Source Type: research

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The epidermis-specific lipid acylceramide plays a pivotal role in the formation of the permeability barrier in the skin; abrogation of its synthesis causes the skin disorder ichthyosis. However, the acylceramide synthetic pathway has not yet been fully elucidated: Namely, the acyl-CoA synthetase (ACS) involved in this pathway remains to be...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: Biological Sciences Source Type: research
X-linked ichthyosis (XLI; OMIM# 308100) is a recessive keratinization disorder characterized by the presence of dark brown, polygonal, adherent scales on different parts of the body surface. It almost exclusiv...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Research article Source Type: research
Source: Journal of the American Academy of Dermatology - Category: Dermatology Authors: Source Type: research
CONCLUSIONS: While the use of CAP for disinfection and wound treatment has already moved into clinical practice, further applications such as cancer treatment are still exploratory. PMID: 31965204 [PubMed - as supplied by publisher]
Source: Der Hautarzt: Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete - Category: Dermatology Tags: Hautarzt Source Type: research
AbstractHyperkeratotic skin adverse events are a group of toxic effects, characterized by the disruption of epidermal homeostasis and interaction with keratinocyte proliferation/differentiation or keratinocyte survival, and frequently reported with systemic anticancer treatments. These types of reactions include hand –foot skin reaction or palmoplantar keratoderma, induced psoriasis, keratosis pilaris-like or pityriasis rubra pilaris-like rashes, Grover’s disease, and contact hyperkeratosis. Cutaneous squamoproliferative lesions are also described because of the presence of abnormal keratinocyte proliferatio n....
Source: Drug Safety - Category: Drugs & Pharmacology Source Type: research
Skin forms a physical and chemical barrier between inside and outside of mammals. Epidermis and especially stratum corneum physically protects from penetration of environmental assaults. Indeed, lipids and ceramide that are components of extracellular matrix in stratum corneum chemically prevent trans-epidermal water loss. Defects in skin barrier could give rise to atopic dermatitis, and/or ichthyosis, a cornification disorder with visible scaling/hyperkeratosis of skin [1].
Source: Journal of Dermatological Science - Category: Dermatology Authors: Source Type: research
Abstract Netherton syndrome (NS) is a rare autosomal recessive ichthyosis syndrome, which manifests at birth or shortly thereafter, and is characterized by erythroderma, ichthyosis linearis circumflexa, trichorrhexis invaginata, immunodeficiency, failure to thrive and high serum IgE level.1 Approximately 80 different mutations in exonic and intronic regions of the SPINK5 gene have been reported, resulting in deficiency of lymphoepithelial Kazal type inhibitor (LEKTI), a serine protease inhibitor in epithelia, thymus, tonsils, parathyroid glands and trachea. Treatment of NS has always been challenging2 , but eviden...
Source: The British Journal of Dermatology - Category: Dermatology Authors: Tags: Br J Dermatol Source Type: research
This article is protected by copyright. All rights reserved. PMID: 31953843 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
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
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