Congenital Ichthyosis

Common Name(s)

Congenital Ichthyosis, Congenital ichthyosis of skin

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 {17: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 ({1: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}) ({32: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 {16: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 {26: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 {14:Eckl et al., 2005}). Genetic Heterogeneity of Autosomal Recessive Congenital Ichthyosis Autosomal recessive congenital ichthyosis-2 (ARCI2; {242100}) is caused by mutation in the ALOX12B gene ({603741}) on chromosome 17p13.1. ARCI3 ({606545}) is caused by mutation in the ALOXE3 gene ({607206}) on chromosome 17p13.1. ARCI4A ({601277}) and ARCI4B (harlequin ichthyosis; {242500}) are caused by mutation in the ABCA12 gene ({607800}) on chromosome 2q35. ARCI5 ({604777}) is caused by mutation in the CYP4F22 gene ({611495}) on chromosome 19p13. ARCI6 ({612281}) is caused by mutation in the NIPAL4 gene (ichthyin; {609383}) on chromosome 5q33. ARCI7 ({615022}) has been mapped to chromosome 12p11. ARCI8 ({613943}) is caused by mutation in the LIPN gene ({613924}) on chromosome 10q23. ARCI9 ({615023}) is caused by mutation in the CERS3 gene ({615276}) on chromosome 15q26. ARCI10 ({615024}) is caused by mutation in the PNPLA1 gene ({612121}) on chromosome 6p21. ARCI11 ({602400}) is caused by mutation in the ST14 gene ({606797}) on chromosome 11q24. ARCI12 ({617320}) is caused by mutation in the CASP14 gene ({605848}) on chromosome 19p13. ARCI13 ({617574}) is caused by mutation in the SDR9C7 gene ({609769}) on chromosome 12q13. ARCI14 ({617571}) is caused by mutation in the SULT2B1 gene ({604125}) on chromosome 19q13. Ichthyosis prematurity syndrome ({608649}) is a self-improving form of ichthyosis that includes respiratory complications at birth and persistent eosinophilia and is caused by mutation in the FATP4 (SLC27A4; {604194}) gene. A rare syndromic form of NCIE, Chanarin-Dorfman syndrome ({275630}), is caused by mutation in the ABHD5 gene ({604780}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Ichthyosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Ichthyosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Congenital Ichthyosis" returned 52 free, full-text research articles on human participants. First 3 results:

Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
 

Author(s): Lisa Heinz, Gwang-Jin Kim, Slaheddine Marrakchi, Julie Christiansen, Hamida Turki, Marc-Alexander Rauschendorf, Mark Lathrop, Ingrid Hausser, Andreas D Zimmer, Judith Fischer

Journal: Am. J. Hum. Genet.. 2017 Jun;100(6):926-939.

 

Ichthyoses are a clinically and genetically heterogeneous group of genodermatoses associated with abnormal scaling of the skin over the whole body. Mutations in nine genes are known to cause non-syndromic forms of autosomal-recessive congenital ichthyosis (ARCI). However, not all ...

Last Updated: 31 Dec 1969

Go To URL
Congenital Ichthyosis and Recurrent Eczema Associated with a Novel ALOXE3 Mutation.
 

Author(s): Takuya Takeichi, Yusuke Okuno, Chiyo Saito, Daiei Kojima, Michihiro Kono, Akimichi Morita, Kazumitsu Sugiura, Masashi Akiyama

Journal: Acta Derm. Venereol.. 2017 04;97(4):532-533.

 

Last Updated: 31 Dec 1969

Go To URL
Vitamin D, bone health and congenital ichthyosis.
 

Author(s): Gomathy Sethuraman, Raman K Marwaha

Journal: Indian J Dermatol Venereol Leprol. ;82(3):249-51.

 

Last Updated: 31 Dec 1969

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Congenital Ichthyosis" returned 5 free, full-text review articles on human participants. First 3 results:

Annular epidermolytic ichthyosis: a rare phenotypic variant of bullous congenital ichthyosiform erythroderma.
 

Author(s): Aditi Jha, Jitender Taneja, V Ramesh, Avninder Singh

Journal: Indian J Dermatol Venereol Leprol. ;81(2):194-7.

 

Last Updated: 31 Dec 1969

Go To URL
Pleomorphic ichthyosis: proposed name for a heterogeneous group of congenital ichthyoses with phenotypic shifting and mild residual scaling.
 

Author(s): Anders Vahlquist

Journal: Acta Derm. Venereol.. 2010 Sep;90(5):454-60.

 

Congenital ichthyosis is often associated with typical neonatal phenotypes, "Collodion baby" and "Harlequin foetus", later transforming into severe lamellar or erythrodermic ichthyosis. However, in a minority of cases the skin condition will improve spontaneously after birth, although ...

Last Updated: 31 Dec 1969

Go To URL
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.
 

Author(s): Matthew L Herman, Sharifeh Farasat, Peter J Steinbach, Ming-Hui Wei, Ousmane Toure, Philip Fleckman, Patrick Blake, Sherri J Bale, Jorge R Toro

Journal: Hum. Mutat.. 2009 Apr;30(4):537-47.

 

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare cornification diseases. Germline mutations in TGM1 are the most common cause of ARCI in the United States. TGM1 encodes for the TGase-1 enzyme that functions in the formation of the cornified cell envelope. ...

Last Updated: 31 Dec 1969

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

A Safety and Tolerability Study of Topical PAT-001 in Congenital Ichthyosis
 

Status: Recruiting

Condition Summary: Congenital Ichthyosis

 

Last Updated: 17 Aug 2017

Go to URL

Last Updated: 1 Sep 2016

Go to URL
A Six Week Topical Cream Study for Subjects With Ichthyosis Vulgaris
 

Status: Recruiting

Condition Summary: Ichthyosis Vulgaris

 

Last Updated: 17 Aug 2017

Go to URL