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Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Dermatology and Venereology.ORCID iD: 0000-0002-1236-7921
Univ Med Ctr, Inst Human Genet, Freiburg, Germany.ORCID iD: 0000-0002-8580-8118
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Dermatology and Venereology. Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala Univ, Dept Med Sci, Dermatol, Uppsala, Sweden.ORCID iD: 0000-0002-3617-8551
2018 (English)In: American Journal of Clinical Dermatology, ISSN 1175-0561, E-ISSN 1179-1888, Vol. 19, no 1, p. 51-66Article, review/survey (Refereed) Published
Abstract [en]

Hereditary ichthyoses are due to mutations on one or both alleles of more than 30 different genes, mainly expressed in the upper epidermis. Syndromic as well as nonsyndromic forms of ichthyosis exist. Irrespective of etiology, virtually all types of ichthyosis exhibit a defective epidermal barrier that constitutes the driving force for hyperkeratosis, skin scaling, and inflammation. In nonsyndromic forms, these features are most evident in severe autosomal recessive congenital ichthyosis (ARCI) and epidermolytic ichthyosis, but to some extent also occur in the common type of non-congenital ichthyosis. A correct diagnosis of ichthyosis-essential not only for genetic counseling but also for adequate patient information about prognosis and therapeutic options-is becoming increasingly feasible thanks to recent progress in genetic knowledge and DNA sequencing methods. This paper reviews the most important aspects of nonsyndromic ichthyoses, focusing on new knowledge about the pathophysiology of the disorders, which will hopefully lead to novel ideas about therapy.

Place, publisher, year, edition, pages
ADIS INT LTD , 2018. Vol. 19, no 1, p. 51-66
National Category
Dermatology and Venereal Diseases
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URN: urn:nbn:se:uu:diva-386352DOI: 10.1007/s40257-017-0313-xISI: 000424292900005PubMedID: 28815464OAI: oai:DiVA.org:uu-386352DiVA, id: diva2:1330866
Available from: 2019-06-26 Created: 2019-06-26 Last updated: 2019-06-26Bibliographically approved

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