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11 Cards in this Set
- Front
- Back
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Clinical Picture
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Inheritance
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X linked recessive: steroid sulfatase gene (STS) on Xp22.32 Gene deletions most common mutation (90%); contiguous gene deletion syndrome (10%)
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Prenatal
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Amnio/CVS
steroid sulfatase assay, increased (DHEAS) levels DNA analysis Maternal estriol (serum/urine) and clehydroepiandrosterone levels |
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Incidence
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1:2,000 1:6,000 males
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Age @P
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2w – 6 w
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Pathogenesis
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Steroid sulfatase gene deletion leads to decreased steroid sulfatase activity in stratum corneum with increased cholesterol sulfate and decreased cholesterol levels; may play a role in retention hyperkeratosis
Contiguous gene deletion syndrome may result in Kallmann syndrome and X linked recessive chondrodysplasia punctata Failure of labor to begin or progress in mother carrying affected fetus because of decreased placental sulfatase and estrogen and increased fetal DHEAS |
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Clinical
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Skin:
Brown, firmly adherent scale increased on extensors, posterior neck, trunk with relative sparing of flexures; sparing of palms, soles, face Eyes: Comma shaped corneal opacities asymptomatic (50% of adult males, some female carriers) Obstetrics: Placental sulfatase deficiency fai lure of labor to begin or progress in mother carry ing affected fetus Genitourinary: Cryptorchiclism (20%) with possible increase in testicular cancer |
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D/Dx
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Ichthyosis vulgaris (p. 2) Epidermolytic hyperkeratosis (p. 6)
Lamel lar ichthyosis (p. 10) Contiguous gene syndromes |
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Lab
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Steroid sulfatase activity assay in scales, cultured fibroblasts, leukocytes
Lipoprotein electrophoresis increased mobility of low density lipoproteins Serum cholesterol sulfate level s i ncreased |
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Manage
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Thorough physical examination by pediatrician
Referral to dermatologist topical emollients Referral to pediatric urologist if symptomatic Advise obstetrician of potential complications |
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Prognosis
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Cutaneous involvement waxes and wanes throughout life with seasonal variation
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