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
Genes
FLG, mapped to 1q21
STS, mapped to Xp22.32
Tumor features (possible)leukemia, acute lymphoblastic (ALL) non-seminoma seminoma
Non-tumor featurescorneal opacities ichthyosis
Comment
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].
References
[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.
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