Ichthyosis Clinical Presentation

Updated: Aug 28, 2018
  • Author: Andrew A Dahl, MD, FACS; Chief Editor: Hampton Roy, Sr, MD  more...
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Presentation

History

See Pathophysiology.

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Physical

Ocular and periocular manifestations that may be seen in the ichthyosiform syndromes include the following:

  • Conjunctiva - Keratinization and thickening secondary to ectropion

  • Cornea (see below)

    • Exposure keratitis secondary to ectropion

    • Unilateral megalocornea (lamellar ichthyosis)

    • Pre-Descemet membrane opacities (X-linked ichthyosis)

    • Recurrent corneal erosion

    • Band keratopathy

    • Salzmann nodules (ichthyosis vulgaris)

    • Microphthalmos (rare)

    • Anterior chamber cleavage syndrome (rare)

    • Enlarged corneal nerves (common to all forms)

    • Stromal vascularization

    • Limbal stem cell deficiency (KID syndrome [common])

  • Eyelids (see below)

    • Ectropion (lamellar ichthyosis)

    • Blepharitis

    • Meibomian gland absence (rare)

    • Trichiasis

    • Madarosis

    • Lacrimal puncta absence

  • Retina (see below)

    • Coloboma (CHIME syndrome)

    • Retinitis pigmentosa (Refsum disease)

    • Maculopathy (Sjögren-Larsson syndrome)

    • Tortuous vessels (carrier state in ichthyosis follicularis-alopecia-photophobia [IFAP] syndrome)

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Causes

See Pathophysiology.

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