Ichthyosis lamellar 2

Common Name(s)

Ichthyosis lamellar 2

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 {4: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 ({2: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}) ({8: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 {5: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 {7: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 {3:Eckl et al., 2005}). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 ({242300}).
 

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Condition Specific Organizations

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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 "Ichthyosis lamellar 2" returned 2 free, full-text research articles on human participants. First 3 results:

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2.
 

Author(s): Caroline Lefévre, Stéphanie Audebert, Florence Jobard, Bakar Bouadjar, Hakima Lakhdar, Omar Boughdene-Stambouli, Claudine Blanchet-Bardon, Roland Heilig, Mario Foglio, Jean Weissenbach, Mark Lathrop, Jean-François Prud'homme, Judith Fischer

Journal: Hum. Mol. Genet.. 2003 Sep;12(18):2369-78.

 

Lamellar ichthyosis type 2 (LI2) is a rare autosomal recessive skin disorder for which a gene has been localized on chromosome 2q33-35. We report the identification of five missense mutations in the ABCA12 gene in nine families from Africa affected by LI2. The mutations were homozygous ...

Last Updated: 3 Sep 2003

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Lamellar ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus.
 

Author(s): L Parmentier, C Clepet, O Boughdene-Stambouli, H Lakhdar, C Blanchet-Bardon, L Dubertret, E Wunderle, F Pulcini, C Fizames, J Weissenbach

Journal: Eur. J. Hum. Genet.. 1999 Jan;7(1):77-87.

 

Lamellar ichthyosis (LI) is an autosomal recessive genodermatosis which has been shown to be both clinically and genetically heterogeneous. Keratinocyte transglutaminase (or transglutaminase 1: TGM1) has been demonstrated to be the disease-causing gene in some families, whilst in ...

Last Updated: 13 May 1999

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Reviews from the PubMed Database

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The terms "Ichthyosis lamellar 2" returned 0 free, full-text review articles on human participants.

 
 
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