Familial X-linked Ichthyosis, Steroid Sulfatase Deficiency, Mental Retardation, and Nullisomy for Xp223-pter

John Barrie Ross, Penelope Witte Allderdice, Larry Jay Shapiro, John Aveling, Brenda Ann Eales, Douglas Simms

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    12 Scopus citations

    Abstract

    Steroid sulfatase (STS)—deficient X-linked ichthyosis was diagnosed in a man with short stature and mental retardation. His generation includes five similarly affected male members. A translocation chromosome is segregating in this Newfoundland kindred. The proband's mother and grandmother have normal skin and are of normal intelligence. From his carrier mother, the proband inherited an X short arm (Xp) to Y long arm (Yq) translocation chromosome, with the entire Y short arm and the X short arm terminal segment deleted (Xp223-pter). His cells are completely deficient in STS activity, confirming assignment of the STS locus to Xp223-pter. Effective management of his ichthyosis included treatment with 6% salicylic acid gel under plastic occlusion and removal of the scales by scrubbing.

    Original languageEnglish
    Pages (from-to)1524-1528
    Number of pages5
    JournalArchives of dermatology
    Volume121
    Issue number12
    DOIs
    StatePublished - Dec 1985

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