Other names: keratitis, ichthyosis and deafness

OMIM: 148210

Inheritance:autosomal dominant

Incidence: very rare

Key findings:

  • skin: sharply outlined and irregularly shaped red plaques with accuminate scale; face more commonly involved than extremities or trunk; generalized, mild erythema and fine scale in some individuals; spiny, keratotic thickening of the palms in some
  • hair: follicular plugging and generalized sparse or absent hair (common)
  • nails: small, malformed nails (common)

Associated findings:

  • eyes: progressive inflammation and thickening of the cornea (keratitis)
  • ears: non-progressive hearing loss

Age at first appearance: birth

Long-term course: often begins as congenital ichthyosiform erythroderma; usually improves during the first year of life leaving the characteristic findings described above; bacterial and fungal infections of the skin appear to be more common than normal, as do skin and mucous membrane cancers

Diagnostic tests: none

Abnormal gene: GJB2 encoding connexin-2

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

To learn more about kid 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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