autosomal recessive congenital ichthyosis 2

Term ID

DOID:0060710

Synonyms

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

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 )