Founded in 1981Educate, inspire, and connect those touched by ichthyosis and related disorders through emotional support, information, advocacy, and research funding for better treatments and eventual cures.
Other names: heredopathia atactica polyneuritoformis;phytanic acid storage disease
Inheritance: autosomal recessive
Incidence: very rare
Key findings: neurologic findings usually precede skin findings
Age at first appearance: neurologic findings usually detected during the first or second decade; skin findings usually later
Long-term course: onset is insidious; neurologic changes progressive but vary with diet; reduced life-expectancy
Diagnostic tests: biochemical measurements on blood or skin cells; analysis of cellular DNA
Abnormal gene: phytanyl CoA hydroxylase
Learn more about FIRST's Regional Support Network - connecting affected individuals and families with each other.
Clinicians seeking diagnosis should visit FIRST's TeleIchthyosis site to submit a case to experts in ichthyosis