Laboratory tests for ichthyosis.

Abstract

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.

• Authors: A S Paller
• Journal: Dermatologic clinics (Dermatol Clin) Vol. 12 Issue 1 Pg. 99-107 (Jan 1994) ISSN: 0733-8635 [Print] United States
• PMID: 7511491 (Publication Type: Journal Article, Review)

Topics

• Biopsy
• Chondrodysplasia Punctata (diagnosis)
• Humans
• Hyperkeratosis, Epidermolytic (diagnosis)
• Ichthyosis (diagnosis)
• Ichthyosis Vulgaris (diagnosis)
• Ichthyosis, Lamellar (diagnosis)
• Ichthyosis, X-Linked (diagnosis)
• Refsum Disease (diagnosis)
• Sjogren-Larsson Syndrome (diagnosis)
• Skin (pathology)
• Syndrome