Ichthyosis and erythrokeratoderma comprise a heterogeneous group of inherited disorders of epidermal differentiation and keratinization. Clinical manifestations may include generalized or localized scaling, hyperkeratosis, erythroderma, palmoplantar keratoderma, or fixed or migratory erythematous plaques. Some forms are isolated, whereas others are associated with neurologic, metabolic, hair, nail, immune, or other systemic abnormalities.

This panel includes genes associated with the major forms of autosomal recessive congenital ichthyosis, keratinopathic ichthyosis, X-linked ichthyosis, erythrokeratoderma, Netherton syndrome, and other inherited disorders of keratinization.

This panel is recommended for patients with congenital or persistent scaling, erythroderma, hyperkeratosis, palmoplantar keratoderma, or other findings suggestive of an inherited disorder of keratinization, particularly when blistering is not the predominant feature.