Autosomal recessive congenital ichthyosis

Authors: Prof. Dr. med. Peter Altmeyer, Prof. Dr. med. Martina Bacharach-Buhles

All authors of this article

Last updated on: 29.10.2020

Dieser Artikel auf Deutsch

Synonym(s)

ARCI; Autosomal recessive congenital ichthyosis

Definition
This section has been translated automatically.

Group of non-syndromal, autosomal recessive inherited congenital ichthyoses based on heterogeneous genetic defects without tendency to blistering. Today, numerous different mutations are known whose etiopathogenetic significance regarding the phenotypic expression of ARICs is not always clearly defined.

Classification
This section has been translated automatically.

This group of ichthyoses (ACRI) includes:

See below Ichthyosis

Occurrence/Epidemiology
This section has been translated automatically.

Congenital autosomal recessive ichthyoses are considerably less frequent than e.g. ichthyosis vulgaris or X-linked recessive ichthyosis(XRI). Their estimated frequency is 1: 60. 000 persons

Etiopathogenesis
This section has been translated automatically.

Mutations in the gene of transglutaminase 1 (TGM1) are found in the most common form of ARCI. Transglutaminase 1 is responsible for the formation of the cell membrane(cornified envelope) in the horny layer cells. Further mutations are recessive mutations in the ABCA12 gene(harlequin-ichthyosis), mutations of the lipoxygenase genes ALOXE3 and ALOX12B located on chromosome 17 (their share in ARCI-ichthyosis is 7% each). Mutations in the cytochrome P450 oxidase gene CYP4F22 were also found (in 8% of ARCI cases). Further mutations are found in the ceramide synthetase 3 (CERS3) gene as well as in the LIPN gene and the gene for caspase 14.

The severity of ARCI varies greatly. In lamellar ichthyosis with transglutaminase deficiency, a correlation between clinical severity and type of mutation can be established.

Clinical features
This section has been translated automatically.

A collodion membrane is often present at birth. The skin is usually completely reddened (erythroderma). The size and colour of the scaling varies greatly. Many people have a rather fine and light brown scaling, while others have a partly plate-like and dark cornification. In this case the scales lie lamella-like on top of each other (hence the name lamellar ichthyosis). The dryness of the skin can lead to an ectropion. The palms of the hands and soles of the feet often show flat hyperkeratosis, an increased line furrow with deep rhagades. In congenital autosomal recessive ichthyosis, the large folds, face and scalp are always affected.

The ability to sweat is reduced in many ichthyosis sufferers. This leads to hyperthermia, especially at high outside temperatures. This can lead to problems in the temperature balance of the body with the danger of circulatory collapse, especially in babies in the hot summer months (it is important to cool the body sufficiently, if necessary by applying moist compresses or thermal spray to the face and neck).

It is not uncommon for growth disorders of the fingernails and toenails to be detectable (watch glass nails). More rarely are growth disorders of the hair. Circumscript irreversible alopecia is also possible.

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.