autosomal recessive congenital ichthyosis 8

Term ID

DOID:0060717

Synonyms

• ARCI8
• lamellar ichthyosis 4
• late-onset lamellar ichthyosis

Definition

An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23. https://www.ncbi.nlm.nih.gov/pubmed/21439540

References

• ICD10CM:Q80.2
• MIM:613943

Ontology

Human Disease   ( DOID:0060717 )