Ichthyosis: A Road Model for Skin Research

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 struct...

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Main Authors: Anders Vahlquist, Hans Törmä
Format: Article
Language:English
Published: Medical Journals Sweden 2020-03-01
Series:Acta Dermato-Venereologica
Subjects:
Online Access: https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3433
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author Anders Vahlquist
Hans Törmä
author_facet Anders Vahlquist
Hans Törmä
author_sort Anders Vahlquist
collection DOAJ
description 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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spelling doaj.art-2995f841e9b14d26b70a7e4b955c8d472022-12-22T04:13:54ZengMedical Journals SwedenActa Dermato-Venereologica0001-55551651-20572020-03-011007adv0009710.2340/00015555-34335693Ichthyosis: A Road Model for Skin ResearchAnders Vahlquist0Hans Törmä Department of Medical Sciences/Dermatology, Uppsala University, SE-751 85 Uppsala, Sweden. anders.vahlquist@medsci.uu.se. 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. https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3433 skin ph arci human epidermis keratins ceramides therapy epidermolytic congenital keratinocytes
spellingShingle Anders Vahlquist
Hans Törmä
Ichthyosis: A Road Model for Skin Research
Acta Dermato-Venereologica
skin ph
arci
human epidermis
keratins
ceramides
therapy
epidermolytic
congenital
keratinocytes
title Ichthyosis: A Road Model for Skin Research
title_full Ichthyosis: A Road Model for Skin Research
title_fullStr Ichthyosis: A Road Model for Skin Research
title_full_unstemmed Ichthyosis: A Road Model for Skin Research
title_short Ichthyosis: A Road Model for Skin Research
title_sort ichthyosis a road model for skin research
topic skin ph
arci
human epidermis
keratins
ceramides
therapy
epidermolytic
congenital
keratinocytes
url https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3433
work_keys_str_mv AT andersvahlquist ichthyosisaroadmodelforskinresearch
AT hanstorma ichthyosisaroadmodelforskinresearch