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- W2748645459 endingPage "66" @default.
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- W2748645459 abstract "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." @default.
- W2748645459 created "2017-08-31" @default.
- W2748645459 creator A5008922933 @default.
- W2748645459 creator A5055667434 @default.
- W2748645459 creator A5062626630 @default.
- W2748645459 date "2017-08-16" @default.
- W2748645459 modified "2023-10-17" @default.
- W2748645459 title "Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment" @default.
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