Congenital Ichthyosiform Erythroderma

Common Name(s)

Congenital Ichthyosiform Erythroderma, Congenital Ichthyosiform Erythroderma (CIE)

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Ichthyosiform Erythroderma" for support, advocacy or research.

Foundation for Ichthyosis and Related Skin Types, Inc.

The Foundation's mission is to educate, inspire, and connect those touched by ichthyosis and related disorders through emotional support, information, advocacy and research funding for better treatments and eventual cures.

Last Updated: 15 Jul 2015

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Ichthyosiform Erythroderma" for support, advocacy or research.

Foundation for Ichthyosis and Related Skin Types, Inc.

The Foundation's mission is to educate, inspire, and connect those touched by ichthyosis and related disorders through emotional support, information, advocacy and research funding for better treatments and eventual cures.

http://www.firstskinfoundation.org

Last Updated: 15 Jul 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Congenital Ichthyosiform Erythroderma" returned 19 free, full-text research articles on human participants. First 3 results:

Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction.
 

Author(s): Tao Wang, Chenchen Xu, Xiping Zhou, Chunjia Li, Hongbing Zhang, Bill Q Lian, Jonathan J Lee, Jun Shen, Yuehua Liu, Christine Guo Lian

Journal:

 

Non-bullous congenital ichthyosiform erythroderma (NBCIE) is a hereditary disorder of keratinization caused by pathogenic variants in genes encoding enzymes important to lipid processing and terminal keratinocyte differentiation. Impaired function of these enzymes can cause pathologic ...

Last Updated: 15 Sep 2015

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ABCA12-deficient Congenital Ichthyosiform Erythroderma in a Boy with an Intellectual Developmental Delay.
 

Author(s): Yukako Inoue, Masaaki Yamamoto, Yoshiko Sakaguchi, Orie Jitsukawa, Katsunori Hayano, Masayuki Yamane, Michiko Sakamoto, Kiyofumi Yamanishi

Journal: Acta Derm. Venereol.. 2015 Jul;95(6):747-9.

 

Last Updated: 24 Jun 2015

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Non-bullous congenital ichthyosiform erythroderma.
 

Author(s): Indrashis Podder, Anupam Das

Journal: Indian Pediatr. 2014 Aug;51(8):679-80.

 

Last Updated: 18 Aug 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Congenital Ichthyosiform Erythroderma" returned 1 free, full-text review articles on human participants. First 3 results:

Annular epidermolytic ichthyosis: a rare phenotypic variant of bullous congenital ichthyosiform erythroderma.
 

Author(s): Aditi Jha, Jitender Taneja, V Ramesh, Avninder Singh

Journal: Indian J Dermatol Venereol Leprol. ;81(2):194-7.

 

Last Updated: 10 Mar 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

A Safety and Tolerability Study of Topical PAT-001 in Congenital Ichthyosis
 

Status: Not yet recruiting

Condition Summary: Congenital Ichthyosis

 

Last Updated: 8 Aug 2016

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Last Updated: 1 Sep 2016

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Last Updated: 4 Oct 2016

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