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 {16: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 {17: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. 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}).
 

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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 31 free, full-text research articles on human participants. First 3 results:

Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.
 

Author(s): Franz P W Radner, Slaheddine Marrakchi, Peter Kirchmeier, Gwang-Jin Kim, Florence Ribierre, Bourane Kamoun, Leila Abid, Michael Leipoldt, Hamida Turki, Werner Schempp, Roland Heilig, Mark Lathrop, Judith Fischer

Journal: PLoS Genet.. 2013 Jun;9(6):e1003536.

 

Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who ...

Last Updated: 11 Jun 2013

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Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.
 

Author(s): Katja-Martina Eckl, Rotem Tidhar, Holger Thiele, Vinzenz Oji, Ingrid Hausser, Susanne Brodesser, Marie-Luise Preil, Aysel Onal-Akan, Friedrich Stock, Dietmar Müller, Kerstin Becker, Ramona Casper, Gudrun Nürnberg, Janine Altmüller, Peter Nürnberg, Heiko Traupe, Anthony H Futerman, Hans C Hennies

Journal: J. Invest. Dermatol.. 2013 Sep;133(9):2202-11.

 

The barrier function of the human epidermis is supposed to be governed by lipid composition and organization in the stratum corneum. Disorders of keratinization, namely ichthyoses, are typically associated with disturbed barrier activity. Using autozygosity mapping and exome sequencing, ...

Last Updated: 16 Aug 2013

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A spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis.
 

Author(s): Jianning Tao, Maranke I Koster, Wilbur Harrison, Jennifer L Moran, David R Beier, Dennis R Roop, Paul A Overbeek

Journal: PLoS ONE. 2012 ;7(11):e50634.

 

Congenital ichthyoses are life-threatening conditions in humans. We describe here the identification and molecular characterization of a novel recessive mutation in mice that results in newborn lethality with severe congenital lamellar ichthyosis. Mutant newborns have a taut, shiny, ...

Last Updated: 11 Dec 2012

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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 4 free, full-text review articles on human participants. First 3 results:

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: 3 Sep 2010

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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: 30 Mar 2009

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Congenital ichthyosis: an overview of current and emerging therapies.
 

Author(s): Anders Vahlquist, Agneta Gånemo, Marie Virtanen

Journal: Acta Derm. Venereol.. 2008 ;88(1):4-14.

 

Congenital ichthyosis is a collective name for a group of monogenetic disorders of cornification, sometimes associated with systemic symptoms. There may be an abnormal quality or quantity of scale produced, abnormal thickness of stratum corneum or abnormal keratinocyte kinetics, often ...

Last Updated: 7 Jan 2008

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine Cutaneous
 

Status: Not yet recruiting

Condition Summary: Lamellar Ichthyosis

 

Last Updated: 15 Oct 2010

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Studies of Skin Microbes in Healthy People and in People With Skin Conditions
 

Status: Recruiting

Condition Summary: Atopic Dermatitis; Eczema; Ichthyosis Vulgaris

 

Last Updated: 23 Aug 2014

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Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers
 

Status: Recruiting

Condition Summary: Sjogren-Larsson Syndrome (SLS)

 

Last Updated: 29 Oct 2013

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