Our dermatologists have asked for advice on the differential diagnosis of
ichthyosis
The proband is a 3 month old male infant with classical features of
ichthyosis vulgaris.
The family however, being web aware, wish to have a diagnosis of x linked
ichthyosis excluded as the maternal grandfather is also affected and
developed corneal opacities.
X linked ichthyosis is due to steroid sulphatase deficiency
I remember about 15 years ago we picked up one of these in the days when
oestriol was used as a marker of placental function and placental sulphatase
deficiency gave abnormal urinary oestriol results.
Is there a modern test for diagnosing steroid sulphatase deficiency? I
assume DHEAS levels would be low, or does anyone have a genetic marker for
this condition?
Any help gratefully received
Dr. M.J. Toop
Harrogate District Hospital
UK
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