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CEDNIK syndrome

A rare neurocutaneous syndrome with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma.

Congenital icthyosiform erythroderma

A form of ichthyosis present at birth with generalized redness (erythroderma) and fine, white scales, which can be associated with palmoplantar keratoderma.

Harlequin icthyosis

The most severe form of congenital ichthyosis, where infants are born with massive, thick, armor-like plates of scale and severe palmoplantar keratoderma.

Icthyosis hystrix

A term for a group of ichthyoses with dramatic, spiny hyperkeratotic scales, often accompanied by severe palmoplantar keratoderma.

KLICK syndrome

A syndrome characterized by palmoplantar Keratoderma, Linear sclerosing bands over joints, Ichthyosis, and pilar Keraosis.

Lamellar icthyosis

A congenital ichthyosis that evolves into large, dark, plate-like scales covering the entire body, frequently with severe palmoplantar keratoderma.

MEDNIK syndrome

A rare neurocutaneous syndrome with mental retardation, enteropathy, deafness, neuropathy, ichthyosis, and keratoderma.

Refsum syndrome

A metabolic disorder of phytanic acid metabolism that causes a mild ichthyosis and keratoderma along with retinitis pigmentosa and neurologic symptoms.

Sjogren-Larsson syndrome

A metabolic disorder causing a congenital ichthyosis with fine, generalized scaling and prominent palmoplantar keratoderma, along with spastic paralysis and intellectual disability.

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