Congenital Non-bullous Ichthyosiform Erythroderma

Description

Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Non-bullous Ichthyosiform Erythroderma

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Flexion contracture
  • Alopecia
  • Hyperkeratosis
  • Abnormality of the pinna
  • Erythema

And another 31 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Congenital Non-bullous Ichthyosiform Erythroderma have a estimated prevalence of 0.3 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Congenital Non-bullous Ichthyosiform Erythroderma Is also known as ichthyosiform erythroderma, nonbullous congenital, 1, formerly, erythrodermic ichthyosis, non-bullous congenital ichthyosiform erythroderma, ncie1, formerly, cie, collodion baby, self-healing, ichthyosiform erythroderma, brocq congenital, nonbullous form, forme.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Congenital Non-bullous Ichthyosiform Erythroderma Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
13 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
13 %
TGM1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

TGM1
Specificity
100 %
Genes
13 %
TGM1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

TGM1
Specificity
100 %
Genes
13 %
TGM1, ALOX12B, ALOXE3, ABCA12. NextGeneDx. Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

TGM1
Specificity
100 %
Genes
13 %
Autosomal Recessive Congenital Ichthyosis (sequence analysis of TGM1 gene).

By CGC Genetics (Portugal).

TGM1
Specificity
100 %
Genes
13 %
Hereditary ichthyosis (NGS panel of 53 genes).

By CGC Genetics (Portugal).

SLC27A4, SNAP29, ST14, STIM1, STS, TGM1, TGM5, SHOC2, SPINK5, SLURP1, RIN2, PSAT1, POMP, VIPAS39, SUMF1, PNPLA1, SRD5A3, PIGL
Specificity
12 %
Genes
25 %
Hereditary ichthyosis (NGS panel of 53 genes).

By CGC Genetics (Portugal).

SLC27A4, SNAP29, ST14, STIM1, STS, TGM1, TGM5, SHOC2, SPINK5, SLURP1, RIN2, PSAT1, POMP, VIPAS39, SUMF1, PNPLA1, SRD5A3, PIGL
Specificity
12 %
Genes
25 %

We have 79 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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