Authors:Gao Linghan, Duan Wenxuan, Duan Yanli, Liu Yang
Corresponding author: Liu Yang, Email:ldyy_liuyang@163.com
Published:2026-10-10
DOI:10.3760/cma.j.cn115989-20260310-00112
ABSTRACT
This report describes the clinical features, diagnostic workup, management, and short-term follow-up of a patient with clinically diagnosed xeroderma pigmentosum (XP)-related keratoconjunctivitis. Slit-lamp examination and anterior segment photography demonstrated premature aging and leathery changes of the bilateral eyelid skin, lower eyelid ectropion, and indistinct meibomian gland orifices, indicating potential involvement of the lid margin and meibomian glands. Additional findings included conjunctival mixed hyperemia, corneal neovascularization, corneal ulcerative infiltration, and stromal edema. In view of the characteristic cutaneous lesions on sun-exposed areas, a history of parental consanguinity, and the above ocular surface abnormalities, XP was diagnosed clinically, and the ocular manifestations were attributed to XP-associated keratoconjunctivitis. Genetic testing, skin biopsy, and supplementary ocular examinations (including corneal scraping and culture, corneal sensation assessment, fluorescein staining score, tear break-up time, and Schirmer test) were not performed at the patient’s request. Therefore, the diagnosis in this case was established primarily on clinical phenotyping. The treatment regimen consisted of lid hygiene, warm compresses, topical antimicrobial agents, ocular lubrication, and short-term anti-inflammatory therapy. The patient was also counseled on strict ultraviolet protection and scheduled for long-term follow-up. One week after treatment, repeat anterior segment photography revealed alleviated lid margin hyperemia, reduced area of corneal ulcerative infiltration, and less hyperemia of corneal neovascularization. This case suggests that XP-related ocular surface disease should be suspected in patients with refractory bilateral keratoconjunctivitis who present with premature eyelid skin aging, madarosis, lower lid ectropion, pigmentary abnormalities of sun-exposed skin, and a family history of consanguinity.
KEYWORDS：
Xeroderma pigmentosum; Keratoconjunctivitis; Ocular surface disease; Corneal neovascularization; Case report
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Authors Info & Affiliations
Gao Linghan
The First Clinical Medical College of Lanzhou University, Lanzhou 730000, China
Duan Wenxuan
The First Clinical Medical College of Lanzhou University, Lanzhou 730000, China
Duan Yanli
The First Clinical Medical College of Lanzhou University, Lanzhou 730000, China
Liu Yang
Ophthalmology Department of Lanzhou University First Hospital, Lanzhou 730000, China
Figures & Tables
Figure 1 Facial and hand photographs of the patient and her elder sister A, B: The patient presented with dense freckle-like pigmentation on sun-exposed areas including the face, hands and upper arms. Pigmented and depigmented areas were intermingled, accompanied by prominent telangiectasia, rough and thickened skin, and premature aging changes. C, D: The patient’s elder sister exhibited similar cutaneous lesions on the face and hands, yet with milder severity.
Figure 2 Anterior segment photographs of both eyes before treatment A: Dry, leathery changes of the right eyelid skin (black arrow). B: Right lower eyelid ectropion with extensive madarosis (black arrow). C: Hypertrophy and hyperemia of the right upper and lower lid margins, with indistinct meibomian gland orifices (black arrow). D: Mixed hyperemia of the right bulbar conjunctiva (white arrow); an approximately 2-mm ulcerative infiltrate was noted superiorly on the cornea (red arrow), with corneal neovascularization extending about 2 mm from the limbus (blue arrow). E: Dry, leathery changes of the left eyelid skin (blue arrow), lower eyelid ectropion and extensive madarosis (red arrow). F: Hypertrophy and hyperemia of the left upper and lower lid margins, with indistinct meibomian gland orifices (black arrow). G: Mixed hyperemia of the left bulbar conjunctiva (white arrow); an approximately 5-mm ulcerative infiltrate was present in the pupillary area of the cornea, with focal scar formation (blue arrow). H: Temporoinferior neovascularization extending approximately 3 mm from the left corneal limbus (white arrow); superior neovascularization extended into the corneal pupillary zone (blue arrow), associated with corneal stromal edema.
Figure 3 Anterior segment photographs of both eyes one week after treatment A: Decreased hyperemia of the right lid margin (black arrow), and reduced size of the corneal ulcerative infiltrate (blue arrow). B: Decreased hyperemia of the left lid margin (black arrow), attenuated hyperemia of corneal neovascularization (white arrow), and reduced size of the corneal ulcerative infiltrate (blue arrow).
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