Ichthyosis, Congenital, Autosomal Recessive 6; Arci6
Description
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B ) (Oji et al., 2010).NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (OMIM ).
Genes related to Ichthyosis, Congenital, Autosomal Recessive 6; Arci6
- NIPAL4
Clinical Features
Top most frequent phenotypes and symptoms related to Ichthyosis, Congenital, Autosomal Recessive 6; Arci6
- Flexion contracture
- Dilatation
- Alopecia
- Hyperkeratosis
- Erythema
- Scarring
- Nail dystrophy
- Ichthyosis
- Palmoplantar keratoderma
- Epidermal acanthosis
And another 12 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Ichthyosis, Congenital, Autosomal Recessive 6; Arci6 Is also known as ichthyosis, congenital, autosomal recessive, nipal4-related.
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.Ichthyosis, Congenital, Autosomal Recessive 6; Arci6 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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NIPAL4.
By Institute for Human Genetics University Clinic Freiburg (Germany).
NIPAL4
Specificity
100 %
Genes
100 % |
NIPAL4. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
NIPAL4
Specificity
100 %
Genes
100 % |
Ichthyosis, congenital, AR 6 (sequence analysis of NIPAL4 gene).
By CGC Genetics (Portugal).
NIPAL4
Specificity
100 %
Genes
100 % |
Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
SLC27A4, ST14, TGM1, ALOXE3, ABCA12, CLDN1, POMP, PNPLA1, ABHD5, LIPN, CERS3, CYP4F22, NIPAL4, ALOX12B, AP1S1, KRT1, KRT10, KRT2, KRT9
Specificity
6 %
Genes
100 % |
Autosomal Recessive Congenital Ichthyosis (ARCI) via NIPAL4 Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
NIPAL4
Specificity
100 %
Genes
100 % |
Ichthyosis Deletion / Duplication panel.
By Connective Tissue Gene Tests (United States).
ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1 , (...)
View the complete list with 7 more genes
Specificity
4 %
Genes
100 % |
Ichthyosis NGS panel.
By Connective Tissue Gene Tests (United States).
ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1 , (...)
View the complete list with 7 more genes
Specificity
4 %
Genes
100 % |
Ichthyosis Comprehensive panel.
By Connective Tissue Gene Tests (United States).
ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1 , (...)
View the complete list with 7 more genes
Specificity
4 %
Genes
100 % |
You can get up to 13 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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