Laboratory tests for ichthyosis

A. S. Paller*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

13 Scopus citations


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. Sjogren-Larsson syndrome: Assay of FAO activity.

Original languageEnglish (US)
Pages (from-to)99-107
Number of pages9
JournalDermatologic clinics
Issue number1
StatePublished - 1994

ASJC Scopus subject areas

  • Dermatology


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