Familial X-linked ichthyosis, steroid sulfatase deficiency, mental retardation, and nullisomy for Xp223-pter

Arch Dermatol. 1985 Dec;121(12):1524-8.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Child
  • Chromosome Aberrations*
  • Chromosome Deletion
  • Female
  • Gels
  • Genetic Linkage
  • Humans
  • Ichthyosis / genetics*
  • Ichthyosis / pathology
  • Ichthyosis / therapy
  • Intellectual Disability / etiology
  • Male
  • Pedigree
  • Salicylates / therapeutic use
  • Salicylic Acid
  • Skin / pathology
  • Steryl-Sulfatase
  • Sulfatases / deficiency*
  • Translocation, Genetic
  • X Chromosome*

Substances

  • Gels
  • Salicylates
  • Sulfatases
  • Steryl-Sulfatase
  • Salicylic Acid