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Last Month’s Blink

Bilateral Ectropion in Nonbullous Ichthyosiform Erythroderma

Written by Nitin Kumar, MBBS, MS, and Zoramthara Zadeng, MBBS, MS, Advanced Eye Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India. Photos by the authors.

A 34-year-old woman present­ed with a six-month history of tearing, foreign body sensation, and outward turning of lid margins in both eyes. Her visual acuity was 20/20 in the right and left eyes. Examination revealed bilateral lower lid ectropion and loss of cilia, along with whitish scales on the skin around the eyelids and face (Fig. 1). Scales and dry skin were present all over her body, especially on the extensor aspects of the hands (Fig. 2), forearms (Fig. 3), and legs, which also had thick, dry, plate­like scales (Fig. 4). In addition, she had clubbing of the fingernails (Fig. 2). She also complained of decreased sweating. Notably, the patient had been born with a collodion membrane, which exfoliates over time, leaving scales on the body. She was re­ferred to the dermatology clinic, where a diagnosis of nonbullous congenital ichthyosiform erythro­derma (NBCIE) was made, and the patient was started on daily oral acitretin and local application of emollients.

NBCIE is a rare, autosomal recessive, chronic inflammatory ichthyosis without blister formation. It is estimated to occur in 1:300,000 newborns of all races. Most common mutations leading to NBCIE are seen in ALOX12B, ABCA12, TGM1, and ALOXE genes.

Many affected individuals are born with a collodion membrane, an epidermal keratinization disorder caused by defective protein and lipid metabolism. The membrane ex­foliates over time, leaving scales all over the body. Ophthal­mic findings include scales on the eyelids, loss of eyelashes, ectropion, dry eyes, epiphora, and corneal scarring with exposure keratopathy, corneal erosions, and perforations. Disease symptoms are severe in children; ectropion of both upper and lower eyelids is common, and conjunctival hyper­emia, stem cell deficiency, and corneal erosions can occur with fissuring of eyelid skin.

There is no cure for NBCIE; supportive treatment includes topical application of keratolytic agents, emollients, fre­quent lubricant drops, and topical or systemic retinoids. Severe cases may require tarsorrhaphy, skin grafting, and systemic immunosuppression.

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