Keith Choate, MD PhD
Brittany Craiglow, MD
Leonard Milstone, MD
Yale University, New Haven, CT

November 2013

Many individuals affected with ichthyosis cite ectropion – an abnormal eversion of eyelids – as one of the most cosmetically displeasing aspects of their skin disorder.  And although ectropion almost universally improves beyond the neonatal period, it can persist throughout life and medical consequences including keratitis,* conjunctivitis,* and epiphora* can ensue.

“Patients with ectropion usually try several different types of drops, creams and even surgery, with varying results,” says Dr. Brittany Craiglow. “Surgery can be a risky option, with a high rate of recurrence, or cosmetic results that are unsatisfactory.  After our recent findings we are encouraging doctors to try less invasive alternatives, like topical tazarotene and other topical retinoids, as another potential treatment option.”

Dr. Craiglow is a member of a team of medical investigators at Yale University, including Dr. Leonard Milstone, Chairperson of FIRST’s Medical & Scientific Advisory Board, and FIRST-funded researcher Dr. Keith Choate, focused on gaining a better understanding of the genetic mutation of ichthyosis and developing better treatments.

One of the team’s recent clinical observations centered on the effect of topical tazarotene on a 77-year old woman with recessive ichthyosis and long-standing bilateral lower eyelid ectropion. The study, conducted over a one year time period, revealed that topical tazarotene provided a potential treatment option for ectropion in this population. The observations were published at JAMA Dermatology Network. An abstract of their observations is as follows:

Importance:  Ectropion is a complication of certain subtypes of ichthyosis and is often associated with substantial medical and cosmetic consequences. At present there is no standard of care for the treatment of ectropion in this population. Retinoids cause dyshesion and thinning of stratum corneum, thereby reducing hyperkeratosis that likely underlies ectropion in patients with ichthyosis.  As such, retinoids provide a potential effective treatment for ectropion in this group of patients.

Observation:  We describe a patient with recessive ichthyosis for whom daily application of topical tazarotene produced rapid and persistent improvement of bilateral lower eyelid ectropion without adverse effects.

Conclusions and Relevance:  Additional studies will be necessary to more fully and systematically address the safety and efficacy of topical retinoids for the treatment of ectropion in patients with ichthyosis; however, this case illustrates that topical tazarotene and other retinoids provide a potential treatment option for ectropion in this population. We encourage clinicians to explore medical therapies as alternatives to surgical intervention for the treatment of ectropion in patients with ichthyosis.

Dr. Craiglow also noted, “It’s a good idea to start out slowly, as topical retinoids have the potential to be irritating. Patients can try the retinoid on one eyelid and compare it to the other to see whether or not it is effective”   Dr. Craiglow also stated, “It is very important that this treatment be done under close supervision of a knowledgeable physician.”

FIRST will provide updates to this clinical study, as they occur.

Brittany G. Craiglow, MD; Keith A. Choate, MD, PhD; Leonard M. Milstone, MD
JAMA Dermatol. 2013;149(5):598-600. doi:10.1001/jamadermatol.2013.239.

*keratitis def: inflammation of the cornea — the clear, dome-shaped tissue on the front of your eye that covers the pupil and iris. Ref. www.mayclinic.com
*Conjunctivitis def: Pink eye. An inflammation or infection of the transparent membrane (conjunctiva) that lines your eyelid and covers the white part of your eyeball.
*epiphora:def: watery eyes. Ref. www.mayoclinic.com