X-linked Ichthyosis

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


 


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