Other names: steroid sulfatase deficiency; recessive X-linked ichthyosis

OMIM: 308100

Inheritance: X-linked recessive

Incidence: 1:2,000 - 1:9,500

Key findings:

  • skin: small, dark, firmly adherent scales; accentuated on sides of neck and trunk; generally spares face, palms, soles, antecubital and popliteal flexures

Associated findings:

  • eyes: asymptomatic, white spots in cornea (50%)
  • genitals: undescended testis (20%)
  • nervous system: mental retardation or other neurologic abnormalities (rare)
  • obstetric: prolonged labor in mothers of affected sons (usual)

Age at first appearance: may be present at birth; often not noticed for months or years

Long-term course: overall severity does not change with time; distinctly worse in dry weather

Diagnostic tests: cholesterol sulfate level in blood; chemical or fluorescence analysis of cellular DNA

Abnormal gene: steroid sulfatase

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

To learn more about X-linked ichthyosis, follow this link.

To learn more about Timber's X-Linked Clinical Trial, 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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