Other names: none

OMIM: 270200

Inheritance: autosomal recessive

Incidence: rare

Key findings:

  • skin: generalized, small, usually dark scales with underlying erythema; central face is often relatively spared; itching is usual; hair and nails are normal

Associated findings:

  • 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

Clinicians seeking to confirm a diagnosis should visit FIRST's TeleIchthyosis site to submit a case to experts in ichthyosis.

To learn more about Sjögren-Larsson syndrome, follow this link.

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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