Conditions / Skin
autosomal recessive congenital ichthyosis 4A
info · Skin · ICD-10: Q80.2
An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.
Signs and symptoms
- Congenital nonbullous ichthyosiform erythroderma
- Ectropion
- Palmoplantar keratoderma
- Clubbing
- Leukonychia
- Spastic paraplegia
- Hepatosplenomegaly
Also known as: ARCI4A; ICR2B; ichthyosis congenita IIB; lamellar ichthyosis 2