autosomal recessive congenital ichthyosis 1

info · Skin · ICD-10: Q80.2

An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2.

Signs and symptoms

Ichthyosis
Ectropion
Palmoplantar hyperkeratosis
Congenital nonbullous ichthyosiform erythroderma
Desquamation of skin soon after birth
Parakeratosis
Everted lower lip vermilion
Epidermal acanthosis
Erythroderma
Alopecia

Also known as: ARCI1