autosomal recessive congenital ichthyosis 2 (DOID:0060710)
Alliance: disease page
Synonyms: ARCI2; BROCQ congenital ichthyosiform erythroderma nonbullous form; NCIE1; nonbullous congenital ichthyosiform erythroderma 1
Alt IDs: OMIM:242100, ICD10CM:Q80.2
Definition: An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13.