Familial X-linked ichthyosis, steroid sulfatase deficiency, mental retardation, and nullisomy for Xp223-pter.
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.
D000328:Adult; D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D005260:Female; D005782:Gels; D008040:Genetic Linkage; D006801:Humans; D007057:Ichthyosis / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D010375:Pedigree; D012459:Salicylates / Q000627:therapeutic use; D020156:Salicylic Acid; D012867:Skin / Q000473:pathology; D043266:Steryl-Sulfatase; D013429:Sulfatases / Q000172:deficiency*; D014178:Translocation, Genetic; D014960:X Chromosome
D005782:Gels; D012459:Salicylates; D013429:Sulfatases; D043266:Steryl-Sulfatase; D020156:Salicylic Acid