| • | AKA steroid sulfatase deficiency |
| • | X-linked recessive (therefore only boys) |
pathogenesis:
| • | (retention hyperkeratosis) decreased steroid sulfatase activity |
| • | leads to increased cholesterol sulfate and decreased cholesterol levels |
| • | normally, conversion of cholesterol by cholesterol sulfatase, present on the cell membrane surface, leads to breakdown of the intercellular lipid lamellae and resultant desquamation |
| • | seem to need cholesterol for normal desquamation (e.g. lipid lowering agents sometimes give acquired ichthyosis) |
| • | failure of labor to begin or progress in mother carrying affected fetus |
| • | often requiring cesarean section |
| • | low maternal urinary estriol and elevated sulfated steroid levels |
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clinical:
| • | brown adherent scales; relative sparing of flexures |
| • | invariable involvement of the sides of the neck giving the patient and unwashed appearance - “dirty neck” |
| • | comma shaped corneal opacities – asymptomatic |
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