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Congenital Recessive Ichthyosis (erythrodermic type)
Non-bullous congenital ichthyosiform erythroderma (NBCIE)
Collodion baby
ALOX12B; ALOXE3 (epidermal lipoxygenases)
ICHTHYIN
NBCIE falls into the spectrum of congenital autosomal recessive ichthyosis (CRI). A collodion membrane is often but not always present at birth. After the membrane is shed, the patient develops mild to severe redness of the skin with generalized whitish scale over the entire body. There may be ectropion and eclabium (out-turning of the eyelids and mouth) due to tautness of the skin. Palms and soles may be involved.
In patients with CRI, TGM1 mutations account for approximately one-third of all cases and should be ruled out first. (
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to see the listing for lamellar ichthyosis). Of those patients who do not have TGM1 mutations, about 12% are expected have mutations in the ALOX12B or ALOXE3 gene, and approximately 6% have mutations in the ICHTHYIN gene. The ALOX genes encode epidermal lipoxygenases, which act in sequence to convert arachidonic acid to epoxyalcohol. The biological functions of ichthyin are currently unknown. There is no known clinical distinction, which allows a priori determination of the gene that is more likely involved in a particular case.
Mutations in the ALOX and ICHTHYIN genes are identified by complete sequence analysis of the entire coding region and flanking splice sites of these genes. Analysis is performed from a peripheral blood sample in EDTA or buccal (cheek) swabs. Mutation-specific testing of relatives (carrier testing) and prenatal diagnosis in at-risk pregnancies is available once the underlying mutation(s) in a family have been identified.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
ichthyosis, lamellar, erythrodermia, erythroderma, erythrodermic, ALOX, ALOX12B, ALOXE3, NBCIE, ICHTHYIN, congenital ichthyosiform erythroderma, collodion membrane, TGM1, ABCA12, lipoxygenase
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