autosomal recessive congenital ichthyosis 2

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 homozyg

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.

Signs and symptoms

• Anhidrosis
• Palmar hyperlinearity
• Congenital nonbullous ichthyosiform erythroderma
• Hypohidrosis
• Ectropion
• Palmoplantar keratoderma
• Abnormal hair morphology
• Everted lower lip vermilion
• Hypergranulosis
• External genital hypoplasia

Also known as: ARCI2; BROCQ congenital ichthyosiform erythroderma nonbullous form; NCIE1; nonbullous congenital ichthyosiform erythroderma 1