Laboratory tests for ichthyosis.
To summarize briefly, the suggested laboratory tests to diagnose the ichthyoses are listed below. Ichthyosis vulgaris: Skin biopsy if necessary. RXLI: Steroid sulfatase activity or levels of cholesterol sulfate. CIE/LI: Usually no laboratory test indicated. Epidermolytic hyperkeratosis: Skin biopsy; consider keratin gene studies. CHILD syndrome: Usually no laboratory tests needed; radiographic studies. Chondrodysplasia punctata: Usually no laboratory studies needed; radiographic studies. IBIDS: Hair shaft examination, including polarization. KID syndrome: Skin biopsy if necessary. Netherton's syndrome: Hair shaft examination. Neutral lipid storage disease: Check blood smear for vacuoles; skin biopsy (frozen). Refsum's disease: Plasma phytanic acid levels. Sjögren-Larsson syndrome: Assay of FAO activity.
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Department of Pediatrics, Northwestern University School of Medicine, Chicago, Illinois.
D001706:Biopsy; D002806:Chondrodysplasia Punctata / Q000175:diagnosis; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000175:diagnosis; D007057:Ichthyosis / Q000175:diagnosis*; D016112:Ichthyosis Vulgaris / Q000175:diagnosis; D017490:Ichthyosis, Lamellar / Q000175:diagnosis; D016114:Ichthyosis, X-Linked / Q000175:diagnosis; D012035:Refsum Disease / Q000175:diagnosis; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis; D012867:Skin / Q000473:pathology; D013577:Syndrome