/autosomal recessive congenital ichthyosis 2

autosomal recessive congenital ichthyosis 2

Rare Disease

MONDO:0009439

Also Known As

ARCI2Brocq congenital ichthyosiform erythroderma nonbullous formNCIE1autosomal recessive congenital ichthyosis type 2ichthyosis, congenital, autosomal recessive type 2nonbullous congenital ichthyosiform erythroderma 1NBCIENCIEcollodion baby, self-healingichthyosiform erythroderma, Brocq congenital, nonbullous formichthyosiform erythroderma, Brocq congenital, nonbullous form, formerlyichthyosiform erythroderma, congenital, nonbullous, 1ichthyosiform erythroderma, nonbullous congenital, 1ichthyosiform erythroderma, nonbullous congenital, 1, formerlyichthyosis, congenital, autosomal recessive 2

Definition

An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin.