ARCI5
MCID: ICH050
MIFTS: 31
|
Ichthyosis, Congenital, Autosomal Recessive 5 (ARCI5)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases, Skin diseases
|
|
MalaCards integrated aliases for Ichthyosis, Congenital, Autosomal Recessive 5:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
disease complicated by recurrent sepsis in some patients HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Skin diseases Eye diseases Respiratory diseases
ICD10:
32
|
OMIM® :
57
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; 242500) (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 (242300). (604777) (Updated 05-Mar-2021)
MalaCards based summary : Ichthyosis, Congenital, Autosomal Recessive 5, also known as autosomal recessive congenital ichthyosis 5, is related to ichthyosis lamellar 3 and hair whorl. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 5 is CYP4F22 (Cytochrome P450 Family 4 Subfamily F Member 22). Affiliated tissues include skin, and related phenotypes are palmoplantar keratoderma and erythroderma Disease Ontology : 12 An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13. UniProtKB/Swiss-Prot : 73 Ichthyosis, congenital, autosomal recessive 5: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. |
Human phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 5:31 (show all 7)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:604777 (Updated 05-Mar-2021) |
|
MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 5:40
Skin
|
Articles related to Ichthyosis, Congenital, Autosomal Recessive 5:(show all 12)
|
ClinVar genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 5:6 (show top 50) (show all 111)
UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 5:73
|
Search
GEO
for disease gene expression data for Ichthyosis, Congenital, Autosomal Recessive 5.
|
|
|