Articles with "congenital ichthyoses" as a keyword



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Congenital ichthyoses: there is always more to learn about managing these rare and complex diseases

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Published in 2019 at "British Journal of Dermatology"

DOI: 10.1111/bjd.17105

Abstract: and better selection of treatment modalities (surgical vs. nonsurgical). As with other noninvasive technologies, OCT is not perfect and carries a potential ‘blind-spot’: it lacks histology-like resolution that translates into a low specificity (~60%), as… read more here.

Keywords: congenital ichthyoses; learn managing; managing rare; ichthyoses always ... See more keywords
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Congenital ichthyoses: European guidelines of care, part two

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Published in 2019 at "British Journal of Dermatology"

DOI: 10.1111/bjd.17552

Abstract: Ichthyosis is the term used to describe continual and widespread scaling of the skin. There are several genetic types which are present from birth and persist life‐long – the “congenital ichthyoses”. There is no agreed… read more here.

Keywords: congenital ichthyoses; part; european guidelines; ichthyoses european ... See more keywords
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Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI‐related genes from the United Arab Emirates

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Published in 2017 at "International Journal of Dermatology"

DOI: 10.1111/ijd.13568

Abstract: Clinical and molecular heterogeneity is a prominent characteristic of congenital ichthyoses, with the involvement of numerous causative loci. Mutations in these loci feature in autosomal recessive congenital ichthyoses (ARCIs) quite variably, with certain genes/mutations being… read more here.

Keywords: congenital ichthyoses; congenital; recessive congenital; mutations underlying ... See more keywords
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Clinico-epidemiological Study of Congenital Ichthyosis in a Tertiary Care Center of Eastern India

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Published in 2017 at "Indian Journal of Dermatology"

DOI: 10.4103/ijd.ijd_411_17

Abstract: Background: Congenital ichthyoses comprises various specific genetic diseases and can range from mild to very severe presentation. Furthermore, these may be associated with various syndromes. There is scanty data regarding the demographic profile and clinical… read more here.

Keywords: ichthyosis; congenital ichthyoses; clinical features; congenital ichthyosis ... See more keywords