Conditions / Skin
X-linked ichthyosis
info · Skin · ICD-10: Q80.1
An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mu
An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22.
Signs and symptoms
- Ichthyosis
- Congenital ichthyosiform erythroderma
- Hypohidrosis
- Palmar hyperlinearity
- Cryptorchidism
- Palmoplantar keratoderma
- Intellectual disability
- Testicular neoplasm
- Opacification of the corneal stroma
Also known as: X-linked ichthyosis with steryl-sulphatase deficiency; X-linked placental steryl-sulphatase deficiency; X-linked recessive ichthyosis