autosomal recessive congenital ichthyosis 2

Term ID

DOID:0060710

Synonyms

• ARCI2
• BROCQ congenital ichthyosiform erythroderma nonbullous form
• NCIE1
• nonbullous congenital ichthyosiform erythroderma 1

(all 4)

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. (2)

References

• ICD10CM:Q80.2
• MIM:242100

Ontology

Human Disease   ( DOID:0060710 )