ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.

[lamellar ichthyosis]

Mutations in ABCA 12 have been described in autosomal recessive congenital ichthyoses (ARCI ) including harlequin ichthyosis (HI ), congenital ichthyosiform erythroderma (CIE ), and lamellar ichthyosis (LI ). HI shows the most severe phenotype . CIE and LI are clinically characterized by fine , whitish scales on a background of erythematous skin , and large , thick , dark scales over the entire body without serious background erythroderma , respectively . To date , a total of 56 ABCA 12 mutations have been reported in 66 ARCI families including 48 HI , 10 LI , and 8 CIE families of African , European , Pakistani /Indian , and Japanese origin (online database : http ://www .derm-hokudai .jp /ABCA 12 /). A total of 62 .5 % of reported ABCA 12 mutations are expected to lead to truncated proteins . Most mutations in HI are truncation mutations and homozygous or compound heterozygous truncation mutations always results in HI phenotype . In CIE families , at least one mutation on each allele is typically a missense mutation . Combinations of missense mutations in the first ATP-binding cassette of ABCA 12 underlie the LI phenotype . ABCA 12 is a keratinocyte lipid transporter associated with lipid transport in lamellar granules , and loss of ABCA 12 function leads to a defective lipid barrier in the stratum corneum , resulting in an ichthyotic phenotype . Recent work using mouse models confirmed ABCA 12 roles in skin barrier formation .

Diseases
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Diseases presenting "skin barrier formation" symptom

harlequin ichthyosis

lamellar ichthyosis

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