During the first or second decade of life, the patient’s sun-exposed skin develops areas of focal hyperpigmentation, atrophy, actinic keratosis, and telangiectasia—as though the patient received a heavy dose of radiation. Later, many cutaneous neoplasms appear; these include squamous cell carcinoma, basal cell carcinoma, and melanoma. Ophthalmic manifestations include photophobia, tearing, blepharospasm, and signs and symptoms of keratoconjunctivitis sicca. The conjunctiva is dry and inflamed with telangiectasia and hyperpigmentation. Pingueculae and pterygia often occur. Corneal complications include exposure keratitis, ulceration, neovascularization, scarring, and even perforation. Keratoconus and gelatinous droplike corneal dystrophy have also been reported. Ocular neoplasms occur in 11% of affected patients, most frequently at the limbus. Squamous cell carcinoma is the most frequent histologic type, followed by basal cell carcinoma and melanoma. The eyelids can be involved, with progressive atrophy, madarosis, trichiasis, scarring, symblepharon, entropion, ectropion, and sometimes even loss of the entire lower eyelid.
Other dermatologic disorders that have ocular manifestations include seborrhea, staphylococcal hypersensitivity, rosacea, and atopic disease. The cornea may show marginal ulceration, neovascularization, and pannus formation. These topics are discussed in depth in Chapter 3.
Skin protection from ultraviolet radiation, including use of sunscreen and protective clothing, is the mainstay of therapy. In addition, patients with xeroderma pigmentosum should be monitored for skin and eyelid malignancies.
Mannis MJ, Macsai MS, Huntley AC, eds. Eye and Skin Disease. Philadelphia: Lippincott- Raven; 1996.
Sadowsky AE. Dermatologic disorders and the cornea. In: Mannis MJ, Holland EJ, eds. Cornea. Vol 1. 4th ed. Philadelphia: Elsevier; 2017:705–718.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.