-transparent.png){kind=logo}
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.
J B Ross, and
P W Allderdice, and
L J Shapiro, and
J Aveling, and
B A Eales, and
D Simms
December 1979,
Clinical biochemistry,
J B Ross, and
P W Allderdice, and
L J Shapiro, and
J Aveling, and
B A Eales, and
D Simms
October 1988,
Human genetics,
J B Ross, and
P W Allderdice, and
L J Shapiro, and
J Aveling, and
B A Eales, and
D Simms
July 1986,
Obstetrical & gynecological survey,
J B Ross, and
P W Allderdice, and
L J Shapiro, and
J Aveling, and
B A Eales, and
D Simms
January 1979,
American journal of human genetics,
J B Ross, and
P W Allderdice, and
L J Shapiro, and
J Aveling, and
B A Eales, and
D Simms
January 1988,
Annals of neurology,
J B Ross, and
P W Allderdice, and
L J Shapiro, and
J Aveling, and
B A Eales, and
D Simms
July 1987,
Annals of neurology,
J B Ross, and
P W Allderdice, and
L J Shapiro, and
J Aveling, and
B A Eales, and
D Simms
December 1990,
Pediatric dermatology,
J B Ross, and
P W Allderdice, and
L J Shapiro, and
J Aveling, and
B A Eales, and
D Simms
February 1982,
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete,
J B Ross, and
P W Allderdice, and
L J Shapiro, and
J Aveling, and
B A Eales, and
D Simms
March 1983,
European journal of pediatrics,
J B Ross, and
P W Allderdice, and
L J Shapiro, and
J Aveling, and
B A Eales, and
D Simms
December 1981,
Archives of dermatology,
