Ichthyosis: A Road Model for Skin Research <sup>1</sup>

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Abstract

The understanding of monogenetic disorders of cornification, including the group of diseases called ichthyoses, has expanded greatly in recent years. Studies of the aetiology of more than 50 types of ichthyosis have almost invariably uncovered errors in the biosynthesis of epidermal lipids or structural proteins essential for normal skin barrier function. The barrier abnormality per se may elicit epidermal inflammation, hyperproliferation and hyperkeratosis, potentially contributing to the patient’s skin symptoms. Despite this and other new knowledge about pathomechanisms, treatment of ichthyosis often remains unsatisfactory. This review highlights a series of approaches used to elucidate the pathobiology and clinical consequences of different types of ichthyosis, and related diseases with the ultimate goal of finding new and better treatments.

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Most cited references 101

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Direct observation of individual endogenous protein complexes in situ by proximity ligation.

Ola Söderberg, Mats Gullberg, Malin Jarvius … (2006)

Cellular processes can only be understood as the dynamic interplay of molecules. There is a need for techniques to monitor interactions of endogenous proteins directly in individual cells and tissues to reveal the cellular and molecular architecture and its responses to perturbations. Here we report our adaptation of the recently developed proximity ligation method to examine the subcellular localization of protein-protein interactions at single-molecule resolution. Proximity probes-oligonucleotides attached to antibodies against the two target proteins-guided the formation of circular DNA strands when bound in close proximity. The DNA circles in turn served as templates for localized rolling-circle amplification (RCA), allowing individual interacting pairs of protein molecules to be visualized and counted in human cell lines and clinical specimens. We used this method to show specific regulation of protein-protein interactions between endogenous Myc and Max oncogenic transcription factors in response to interferon-gamma (IFN-gamma) signaling and low-molecular-weight inhibitors.

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Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

Heiko Traupe, Fanny Morice-Picard, Witold K Jacyk … (2010)

Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification, typically involving the entire integument. Over the recent years, much progress has been made defining their molecular causes. However, there is no internationally accepted classification and terminology. We sought to establish a consensus for the nomenclature and classification of inherited ichthyoses. The classification project started at the First World Conference on Ichthyosis in 2007. A large international network of expert clinicians, skin pathologists, and geneticists entertained an interactive dialogue over 2 years, eventually leading to the First Ichthyosis Consensus Conference held in Sorèze, France, on January 23 and 24, 2009, where subcommittees on different issues proposed terminology that was debated until consensus was reached. It was agreed that currently the nosology should remain clinically based. "Syndromic" versus "nonsyndromic" forms provide a useful major subdivision. Several clinical terms and controversial disease names have been redefined: eg, the group caused by keratin mutations is referred to by the umbrella term, "keratinopathic ichthyosis"-under which are included epidermolytic ichthyosis, superficial epidermolytic ichthyosis, and ichthyosis Curth-Macklin. "Autosomal recessive congenital ichthyosis" is proposed as an umbrella term for the harlequin ichthyosis, lamellar ichthyosis, and the congenital ichthyosiform erythroderma group. As more becomes known about these diseases in the future, modifications will be needed. We have achieved an international consensus for the classification of inherited ichthyosis that should be useful for all clinicians and can serve as reference point for future research. Copyright © 2010 American Academy of Dermatology, Inc. All rights reserved.

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pH in nature, humans and skin

Ehrhardt Proksch (2018)

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Author and article information

Journal

Journal ID (nlm-ta): Acta Derm Venereol

Journal ID (iso-abbrev): Acta Derm Venereol

Journal ID (publisher-id): ActaDV

Title: Acta Dermato-Venereologica

Publisher: Society for Publication of Acta Dermato-Venereologica

ISSN (Print): 0001-5555

ISSN (Electronic): 1651-2057

Publication date (Electronic): 25 March 2020

Publication date Collection: 2020

Volume: 100

Issue: 7

Electronic Location Identifier: 5691

Affiliations

Department of Medical Sciences, Uppsala University, Uppsala, Sweden

Author notes

Corr: Anders Vahlquist and Hans Törmä, Department of Medical Sciences, Uppsala University, SE-751 85 Uppsala, Sweden. E-mails: anders.vahl-quist@ 123456medsci.uu.se , hans.torma@ 123456medsci.uu.se

Article

Publisher ID: ActaDV-100-7-5693

DOI: 10.2340/00015555-3433

PMC ID: 9128938

PubMed ID: 32147743

SO-VID: 9ba9a73a-d926-4605-8d8b-c5ffaf0caf20

License:

This is an open access article under the CC BY-NC license

History

Date accepted : 12 February 2020

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