Other names: none
Inheritance: autosomal recessive
- skin: generalized, small, usually dark scales with underlying erythema; central face is often relatively spared; itching is usual; hair and nails are normal
- neurologic: spastic di- or tetraplegia; mental retardation is typical; epilepsy (1/3)
- eyes: photophobia and poor vision (common)
- teeth: enamel defects (common)
Age at first appearance: skin changes may be present at birth; usually appear within the first year
Long-term course: scales generally get larger and darker with time and the erythema fades; mental retardation is non-progressive; neuromuscular deficits progress through puberty then stabilize
Diagnostic tests: biochemical measurements on skin fibroblasts; analysis of cellular DNA
Abnormal gene: fatty aldehyde dehydrogenase
Learn more about FIRST's Regional Support Network - connecting affected individuals and families with each other. Or call the FIRST office at 800.545.3286.
This information is provided as a service to patients and parents of patients who have ichthyosis. It is not intended to supplement appropriate medical care, but instead to complement that care with guidance in practical issues facing patients and parents. Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors nor Foundation staff and officials endorse any treatments or products reported here. All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.
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