Ichthyosis, Congenital, Autosomal Recessive 4a; Arci4a

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 ).

Clinical Features

Top most frequent phenotypes and symptoms related to Ichthyosis, Congenital, Autosomal Recessive 4a; Arci4a

  • Flexion contracture
  • Alopecia
  • Hyperkeratosis
  • Hepatosplenomegaly
  • Abnormality of the nervous system
  • Erythema
  • Scarring
  • Spastic paraplegia
  • Nail dystrophy
  • Paraplegia

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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 4a; Arci4a Is also known as ichthyosis, lamellar, 2, formerly, ichthyosis congenita iib, li2, formerly, icr2b.

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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Ichthyosis, Congenital, Autosomal Recessive 4a; Arci4a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
ABCA12.

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

ABCA12
Specificity
100 %
Genes
100 %
ABCA12 Gene Sequencing.

By GeneDx (United States).

ABCA12
Specificity
100 %
Genes
100 %
ABCA12 Select Exon Sequencing.

By GeneDx (United States).

ABCA12
Specificity
100 %
Genes
100 %
ABCA12. Complete sequencing.

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

ABCA12
Specificity
100 %
Genes
100 %
ABCA12. Complete sequencing.

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

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

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

ALOXE3, ABCA12, ALOX12B
Specificity
34 %
Genes
100 %
Ichthyosis, AR 4B (harlequin) (sequence analysis of ABCA12 gene).

By CGC Genetics (Portugal).

ABCA12
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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