FaCD Online Syndrome Fact Sheet

Last updated: 29 Feb 2008

Name: Ichthyosis

Synonym: X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris

Mode of Inheritance: XLR / AD

OMIM number: 308100   146700  


FLG, mapped to 1q21
STS, mapped to Xp22.32

Tumor features (possible)

leukemia, acute lymphoblastic (ALL)

Non-tumor features

corneal opacities


In this disorder ichthyosis is generalized, extensor surfaces being the most severely affected sites. The palms and soles are usually unaffected. Corneal opacities are another frequent feature and may also be noted in female carriers (XL type). A few cases of testicular cancer have been observed in males with X-linked ichthyosis[1-3]. A few testicular cancer patients with ichthyosis and probable autosomal dominant inheritance have been reported as well[3]. ALL has been diagnosed in a patient with the X-linked type[4].


[1] Lykkesfeldt G, Lykkesfeldt AE, Hoyer H, Skakkebaek NE. Steroid sulphatase deficiency associated with testis cancer. Lancet 1983; 24(31):1456.
[2] Lykkesfeldt G, Hoyer H, Ibsen HH, Brandrup F. Steroid sulphatase deficiency disease. Clin Genet 1985; 28:231-237.
[3] Lykkesfeldt G, Bennett P, Lykkesfeldt AE, Micic S, Rørth M, Skakkebaek NE, Svenstrup B. Testis cancer. Ichthyosis constitutes a significant risk factor. Cancer 1991; 67(3):730-4.
[4] Mallory SB, Kletzel M, Turley CP. X-linked ichthyosis with acute lymphoblastic leukemia. Archives of dermatology 1988; 124(1):22-4.