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An autosomal dominant disease characterized by ichthyosis due to epidermal hyperproliferation and increased keratinisation, hypomyelination of the central white matter, spastic paraplegia, central nystagmus, optic atrophy, reduction of peripheral vision and visual acuity, and dysmorphic facial features.

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Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features (IKSHD)

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Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic features (IKSHD) is an autosomal dominant disease characterized by epidermal hyperproliferation and increased keratinization, producing ichthyosis. It is also associated with hypomyelination of the central white matter.

ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES; IKSHD INHERITANCE - Autosomal dominant - Autosomal recessive