Abstract To the Editor.— Sex-linked ichthyosis is caused by a deficiency of microsomal steroid sulfatase activity in all tissues. The incidence is approximately one in 2000 to 6000 men, and the disease is inherited in an X-linked recessive manner. The steroid sulfatase locus has been mapped to the distal segment of the X-chromosome short arm.1 No association has yet been described between leukemia and X-linked ichthyosis. We describe an adolescent male with these two entities. Report of a Case.— A 13-year-old boy presented with a four-week history of lethargy, bone pain, and progressive pallor. His skin at presentation was dry and scaly, which condition had developed in infancy. Dark scales were especially prominent around the neck and upper shoulders (Fig 1), sparing the flexural areas. There was no lymphadenopathy or splenomegaly. However, his liver was 2 cm below the right costal margin. Results of the remainder of the physical examination, including testicular References 1. Tiepolo L, Zuffardi O, Fraccaro M, et al: Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223 . Hum Genet 1980;54:205-206.Crossref 2. Epstein EH, Leventhal ME: Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis . J Clin Invest 1981;67:1257-1262.Crossref 3. Epstein EH, Krauss RM, Shackleton CHL: X-linked ichthyosis: Increased blood cholesterol sulfate and electrophoretic mobility of low-density lipoprotein . Science 1981;214:659-660.Crossref 4. Ross JB, Allderdice PW, Shapiro LJ, et al: Familial X-linked ichthyosis, steroid sulfatase deficiency, mental retardation, and nullisomy for Xp223-pter . Arch Dermatol 1985;121:1524-1528.Crossref 5. Lykkesfeldt G, Hoyer H, Ibsen HH, et al: Steroid sulphatase deficiency disease . Clin Genet 1985;28:231-237.Crossref 6. Sandberg AA: The chromosomes in human leukemia . Semin Hematol 1986;23:201-217. 7. Greenwald ES: Cancer Chemotherapy , ed 2. New York, Medical Examination Publishing Co Inc, 1973. 8. Braverman IM: Skin Signs of Systemic Disease , ed 2. Philadelphia, WB Saunders Co, 1981.
Archives of Dermatology – American Medical Association
Published: Jan 1, 1988