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GENATLAS PHENOTYPE
last update : 14-06-2010
Symbol NCIE3B
Location 17p13.1
Name non bullous congenital ichthyosiform erythroderma 3B
Other name(s) ichthyosis, congenital, autosomal recessive 2
Corresponding gene ALOX12B
Other symbol(s) LI5, ARCI2
Main clinical features
  • non lysosomal inborn error of neutral lipid metabolism
  • characterized by ichthyosis upon an erythema background with fine white scaling, collodion babies at birth, liver steatosis with hepatomegaly lipid droplets in granulocytes and in most tissues
    • Genetic determination autosomal recessive
    Related entries including cases of self-healing newborns of collodion phenotype (Harting 2008)
    Function/system disorder metabolism/lipoprotein-lipid
    dermatology
    Type disease
    Gene product
    Name arachidonate 12-lipoxygenase- ALOX12B
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown  
    Remark(s)
    Genotype/Phenotype correlations
  • compound heterozygous for novel ALOX12B mutations, underscoring the concept that mutations in at least 2 different genes, ALOX12B and TGM1, may result in cases of self-healing newborns of collodion phenotype, and and mild nonbullous congenital ichthyosiform erythroderma (Harting 2008)