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Glossary Congenital Ichthyosis

genetic skin disorder causing dry, scaly skin at birth

Congenital Ichthyosis, also known as Ichthyosis Congenita, is a group of rare genetic skin disorders present at birth, characterized by dry, scaly skin that resembles fish scales. These conditions result from mutations in genes responsible for skin barrier function, leading to abnormal skin shedding and thickening.

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research Management of congenital ichthyoses: European guidelines of care, part two

66 citations , June 2018 in “British Journal of Dermatology”

These guidelines review the management of complications and specific forms of congenital ichthyosis and report no new results; they summarize expert and evidence-based recommendations for clinicians.

A Spontaneous Fatp4/Slc27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis

research A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis

13 citations , November 2012 in “PLoS ONE”

This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.

Novel Adenosine Triphosphate-Binding Cassette, Subfamily A, Member 12 Mutations Associated with Congenital Ichthyosiform Erythroderma

research Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma

11 citations , September 2011 in “British Journal of Dermatology”

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

research Recent advances in congenital ichthyoses

10 citations , July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics”

This review discusses updates in the genetics and clinical understanding of congenital ichthyosis and highlights the addition of N-acetylcysteine and topical enzyme replacement to the treatment options, without providing new clinical results.

Autosomal Recessive Congenital Ichthyosis Due to PNPLA1 Mutation in a Golden Retriever–Poodle Cross-Bred Dog and the Effect of Topical Therapy

research Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever–poodle cross‐bred dog and the effect of topical therapy

9 citations , May 2016 in “Veterinary dermatology”

This case report describes how a long-term combination of oral fatty acids and topical therapy appeared beneficial for managing autosomal recessive congenital ichthyosis in a goldendoodle with a PNPLA1 mutation.

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