History

See Pathophysiology.

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)

Causes

See Pathophysiology.

Differential Diagnoses

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Media Gallery

This direct illumination slit lamp photograph discloses a reticular central corneal haze that is seen bilaterally. Visual acuity is 20/20 in both eyes. The patient's chief complaint is photophobia and dry scaly skin.
This slit beam illumination photograph of the cornea localizes the corneal opacity to the posterior stroma and the pre-Descemet membrane region. This type of corneal opacity is commonly present in X-linked recessive ichthyosis.
An orbital mass is shown on CT scan in a 38-year-old male with human immunodeficiency virus (HIV) who presented with a late onset generalized ichthyotic rash and proptosis.

of 3

Author

Andrew A Dahl, MD, FACS Assistant Professor of Surgery (Ophthalmology), New York College of Medicine (NYCOM); Director of Residency Ophthalmology Training, The Institute for Family Health and Mid-Hudson Family Practice Residency Program; Staff Ophthalmologist, Telluride Medical Center

Andrew A Dahl, MD, FACS is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, American Intraocular Lens Society, American Medical Association, American Society of Cataract and Refractive Surgery, Contact Lens Association of Ophthalmologists, Medical Society of the State of New York, New York State Ophthalmological Society, Outpatient Ophthalmic Surgery Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Steven R Feldman, MD, PhD Professor, Departments of Dermatology, Pathology and Public Health Sciences, and Molecular Medicine and Translational Science, Wake Forest Baptist Health; Director, Center for Dermatology Research, Director of Industry Relations, Department of Dermatology, Wake Forest University School of Medicine

Steven R Feldman, MD, PhD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, North Carolina Medical Society, Society for Investigative Dermatology

Disclosure: Received honoraria from Amgen for consulting; Received honoraria from Abbvie for consulting; Received honoraria from Galderma for speaking and teaching; Received consulting fee from Lilly for consulting; Received ownership interest from www.DrScore.com for management position; Received ownership interest from Causa Reseasrch for management position; Received grant/research funds from Janssen for consulting; Received honoraria from Pfizer for speaking and teaching; Received consulting fee from No.

Chief Editor

Hampton Roy, Sr, MD † Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy, Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Additional Contributors

Kenneth M Goins, MD Professor of Clinical Ophthalmology, Director of Cornea and External Diseases and Refractive Surgery, Department of Ophthalmology, University of Iowa Hospitals and Clinics; Medical Director of Iowa Lions Eye Bank

Kenneth M Goins, MD is a member of the following medical societies: American Society of Cataract and Refractive Surgery, Eye Bank Association of America, International Society of Refractive Surgery, Iowa Medical Society, American Academy of Ophthalmology, American Medical Association

Disclosure: Nothing to disclose.

Seth Adam Anderson Des Moines University College of Osteopathic Medicine

Disclosure: Nothing to disclose.

Matthew Rauen, MD Fellow in Corneal, External Diseases and Refractive Surgery, Department of Ophthalmology and Visual Sciences, University of Iowa Health Care

Matthew Rauen, MD is a member of the following medical societies: American Academy of Ophthalmology

Disclosure: Nothing to disclose.

Arash Taheri, MD Research Fellow, Center for Dermatology Research, Department of Dermatology, Wake Forest University School of Medicine

Disclosure: Nothing to disclose.