X-Linked Ichthyosis

Reference work entry

X-linked ichthyosis is a relatively common genetic disorder of keratinization. It is the second most common type of ichthyosis after vulgaris. The incidence is estimated to be between 1 in 2,000 and 1 in 6,000 male live births.

Synonyms and Related Disorders

Placental steroid sulfatase deficiency; Steroid sulfatase deficiency

Genetics/Basic Defects

  1. 1.
    1. a.

      X-linked recessive

    2. b.

      Usually affects males only

    3. c.

      Transmitted by carrier females (about 1 in 2,000 women are carriers of steroid sulfatase (STS) enzyme deficiency)

    4. d.

      Most apparently, sporadic cases appear to be inherited based on biochemical analysis (as their mothers showed low values of STS enzyme activity).

    5. e.

      Reports of a few affected female patients

  2. 2.
    Etiology (Janniger and Schwartz 2001)
    1. a.

      Caused by a deficiency of STS enzyme

    2. b.
      The STS gene
      1. i.

        Mapped on the distal part of the short arm of the X chromosome (Xp22.3)

      2. ii.

        Close to the pseudoautosomal region

      3. iii.

        Unlike most X-chromosome genes, the STS...


Down Syndrome Testicular Cancer Kallmann Syndrome Steroid Sulfatase Sulfated Steroid 
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