Ophthalmic Surgery, Lasers and Imaging Retina

CASE REPORT 

Anhidrotic Ectodermal Dysplasia With Spontaneous Corneal Perforation and Keratoconus

Guy J Ben Simon, MD; Aaron Grinbaum, MD

Abstract

Abstract. A patient with anhidrotic ectodermal dysplasia and severe dry eyes was admitted with spontaneous corneal perforation in his right eye. The corneal perforation was sealed with cyanoacrylate glue and bandage contact lens placement. Three weeks later, the patient underwent penetrating keratoplasty. On follow-up examination, he had corneal graft abscess that was treated successfully with topical antibiotics and corneal erosion that was treated with a bandage contact lens. Corneal topography performed as a routine examination showed inferior corneal steepening typical of keratoconus in the left eye. This accidental discovery of keratoconus in the patients left eye may suggest a possible association between anhidrotic ectodermal dysplasia and keratoconus. [Ophthalmic Surg Lasers Imaging 2004;35:495-498.]

Abstract

Abstract. A patient with anhidrotic ectodermal dysplasia and severe dry eyes was admitted with spontaneous corneal perforation in his right eye. The corneal perforation was sealed with cyanoacrylate glue and bandage contact lens placement. Three weeks later, the patient underwent penetrating keratoplasty. On follow-up examination, he had corneal graft abscess that was treated successfully with topical antibiotics and corneal erosion that was treated with a bandage contact lens. Corneal topography performed as a routine examination showed inferior corneal steepening typical of keratoconus in the left eye. This accidental discovery of keratoconus in the patients left eye may suggest a possible association between anhidrotic ectodermal dysplasia and keratoconus. [Ophthalmic Surg Lasers Imaging 2004;35:495-498.]

INTRODUCTION

Ectodermal dysplasias are a group of hereditary diseases characterized by diffuse involvement of tissues of ectodermal origin, including skin, hair, nails, teeth, and eccrine glands. The different forms of ectodermal dysplasias are summarized in Table 1. The overall prevalence is estimated to be 100 per 1 million of population. Patients are classified into two main groups: those with a defect in at least two "classic" structures -sweat glands, hair, teeth, and nails - (group A) and those with a defect in one "classic" structure and other ectodermal structures (group B). Several types of inheritance have been described, including autosomal dominant, autosomal recessive, and X-linked recessive.1-3 The anhidrotic variant of ectodermal dysplasia (X-linked recessive, Xq 12.2- 13.1) presents as partial or total absence of sweat glands, hypotrichosis, hypodontia, and possibly existence of atopic disease. It commonly affects males (90%). Clinical manifestations of ectodermal dysplasias are summarized in Table 2.

Table

TABLE 1Classification of Ectodermal Dysplasias

TABLE 1

Classification of Ectodermal Dysplasias

Ocular involvement of ectodermal dysplasia includes dry eyes, recurrent corneal erosions, corneal neovascularization, and cataracts. Other ocular abnormalities have also been described.4 7 Ocular findings in ectodermal dysplasia are summarized in Table 2.

Keratoconus is a non-inflammatory progressive disorder characterized by corneal thinning and ectasia. The etiology of keratoconus remains unknown, although many diseases have been described in association with it. Most cases appear to be sporadic, although a family history has been reported in 6% to 8% of cases.8 Keratoconus has not been described before in association with anhidrotic ectodermal dysplasia.

Table

TABLE 2Systemic and Ocular Findings of Ectodermal Dysplasias

TABLE 2

Systemic and Ocular Findings of Ectodermal Dysplasias

CASE REPORT

A 45-year-old man was referred to our department complaining of pain and tearing in his right eye 1 day prior to admission. There was no history of trauma, contact lens use, or herpetic keratitis. He had been previously treated in our outpatient clinic for anhidrotic ectodermal dysplasia with dry eyes. Results of the Schirmer test that was performed on a previous visit measured less than 5 mm (after 5 minutes with topical anesthesia), and there was mild superficial punctate keratitis on several occasions. Examination of his right eye showed a visual acuity of hand motions, an intraocular pressure of 0 mm Hg, central corneal perforation (1 mm in diameter) with flat anterior chamber, and iridocorneal touch. He was bald with sparse lashes and brows. Results of examination of his left eye were normal with a corrected visual acuity of 20/20 (spectacle correction). Corneal perforation was sealed with cyanoacrylate glue and bandage contact lens placement.

Three weeks later, he was readmitted with corneal perforation 1 day after his therapeutic contact lens had been removed. The patient underwent penetrating keratoplasty and lateral tarsorrhaphy. Two months later, he developed anterior stromal corneal graft abscess (at the 6-o'clock position) and was treated successfully with topical vancomycin (33 mg/mL) and ceftazidime (40 mg/mL). Cultures of the corneal abscess revealed Staphylococcus epidermidis.

Corneal topography performed as a routine examination after penetrating keratoplasty showed inferior corneal steepening of the left eye typical of keratoconus (Figure). There were no clinical signs of keratoconus in the left eye. Pachymetry of the left eye showed a corneal thickness of 490 nm.

DISCUSSION

The case described shows typical systemic and ocular manifestations of anhidrotic ectodermal dysplasia. The patient was bald with sparse eyelashes and eyebrows, and had pale, dry skin. Ocular involvement included dry eyes with mild to moderate punctate keratitis; no other ocular abnormalities were noticed. Dry eyes in patients with ectodermal dysplasia result mainly from diminished tear production due to hypoplastic lacrimal ducts and from aplasia of the meibomian glands. This may have caused spontaneous corneal perforation in our patient. A similar complication was reported by McNaab et al.,5 who described two patients with spontaneous corneal perforation due to corneal ulceration; they had ectrodactyly-ectodermal dysplasia-clefting (EEC) as opposed to anhidrotic ectodermal dysplasia. EEC syndrome is characterized by a complete absence of meibomian glands or by an alteration of the meibomian gland orifices.9

On the basis of this case report and a recent study that examined ocular involvement in ectodermal dysplasia syndromes,7 we recommend aggressive treatment of dry eyes at an earlier stage. In cases of meibomian gland dysfunction, lipid-containing eye drops may be beneficial. Regular eyelid hygiene and treatment of blepharitis is useful to minimize infections of the eyelid margin. In cases of epithelial defects, topical antibiotic treatment may be necessary.7

Figure. Corneal topography showing inferior steepening typical of keratoconus in the patients left eye.

Figure. Corneal topography showing inferior steepening typical of keratoconus in the patients left eye.

Corneal involvement in hidrotic ectodermal dysplasia was reported by Donahue et al.,4 who described two patients (father and son) with recurrent corneal epithelial defects from birth and corneal neovascularization. Interestingly, these patients had the hidrotic variant of ectodermal dysplasia, and did not suffer from dry eyes.

Atopic disease in anhidrotic ectodermal dysplasia can be one of the mechanisms for development of keratoconus,2 although our patient did not have a history of atopic disease. Corneal stroma is of mesectodermal origin; thus, pathologic changes in stromal cells may play a role in anhidrotic ectodermal dysplasia. Ocular structures that are derived from surface ectoderm include conjunctiva, corneal epithelium, lacrimal gland and drainage system, lens, and vitreous.4 Therefore, development of keratoconus cannot be explained only by the disease process per se. Although its finding may be coincidental, keratoconus can also be related to the severe ocular surface abnormalities noticed in ectodermal dysplasia.

REFERENCES

1. Moyes AL, Hordinsky M, Holland EJ. Ectodermal dysplasia. In: Mannis MJ, Macsai MS, Hundey AC, et al. Eye and Skin Disease. Philadelphia: Lippincott- Raven; 1996:3-145.

2. Palier AS. Hereditary disease of skin, hair, nails and skin structure. In: Maldonado L, Parish B, eds. Pediatric Dermatobgy. Philadelphia: Grune & Stratton; 1989:85.

3. Shah KS, Umrigar DD. Unusual cutaneous manifestations of anhidrotic ectodermal dysplasia. J Dermatol. 1990;17:380-384.

4. Donahue JP, Shea CJ, Taravella MJ. Hidrotic ectodermal dysplasia with corneal involvement. J AAPOS. 1999;3:372-375.

5. McNaab AA, Potts MJ, Welham RA. The EEC syndrome and its ocular manifestations. Br J Ophthalmol. 1989;73:261-264.

6. Marshall D. Ectodermal dysplasia: a report of kindred with ocular abnormalities and hearing defect. Am J Ophthalmol. 1958;45:143-156.

7. Kaercher T. Ocular symptoms and signs in patients with ectodermal dysplasia syndromes. Graefes Arch Clin Exp Ophthalmol. 2004;242:495-500.

8. Rabinowitz YS. Keratoconus. Surv Ophthalmol. 1998; 42:297-319.

9. Mondino BJ, Bath PE, Foos RY, Apt L, Rajacich GM. Absent meibomian glands in the ectrodactyly, ectodermal dysplasia, cleft-lip palate syndrome. Am J Ophthalmol. 1984;97:496-500.

TABLE 1

Classification of Ectodermal Dysplasias

TABLE 2

Systemic and Ocular Findings of Ectodermal Dysplasias

10.3928/1542-8877-20041101-10

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