Conditions / Skin
autosomal recessive congenital ichthyosis 13
info · Skin
An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13.
Signs and symptoms
- Hypergranulosis
- Ichthyosis
- Palmoplantar hyperkeratosis
- Unusual fungal nail infection
- Hyperkeratosis