|OJHAS Vol. 12, Issue 3:
Ocular Surface Squamous Neoplasia in Xeroderma Pigmentosum
Rajesh R Nayak, Gurudutt M Kamath, Manjunath M Kamath, Ajay R Kamath, Susan D'Souza,
Department of Ophthalmology, Kasturba Medical College Hospital, Manipal University, Attavar Mangalore 575001, Karnataka,
Address for Correspondence
Junior Resident, Department of Ophthalmology,
Kasturba Medical College, Manipal University,
Attavar, Mangalore 575001,
Nayak RR, Kamath GM, Kamath MM, Kamath AR, D'Souza S, Roopashree. Ocular Surface Squamous Neoplasia in Xeroderma Pigmentosum. Online J Health Allied Scs.
2013;12(3):15. Available at URL:
Open Access Archives
Submitted: Jul 6, 2013; Accepted: Oct 25, 2013; Published: Nov 15, 2013
Abstract: Xeroderma pigmentosum (XP) is a rare genetic disorder associated with multiple oculocutaneous and neurological manifestations. It occurs due to deficiency of the enzymes responsible for repairing ultraviolet radiation-induced DNA damage. Persistence of un-repaired DNA results in somatic mutations, leading to neoplasia of the skin and ocular surface. As this condition is rare, only isolated case reports of XP with ocular surface squamous neoplasia (OSSN) are found in literature.
Ocular surface squamous neoplasia; Xeroderma pigmentosum
Six years old male child diagnosed with Xeroderma Pigmentosum was referred to ophthalmology from dermatology department. He presented with mass in the right eye since 3 months, gradually progressing in size and painless. He had bilateral photophobia. There was a similar history of pigmented skin lesion in the sibling. On examination, visual acuity was perception of light and 6/60 in the right and left eye respectively.
Ocular motility and left eye fundoscopy was normal. Right eye showed fleshy pink irregular pedunculated mass lesion of 3 cm arising from superior limbus covering the cornea.[Figure 1] Left eye showed hazy cornea and hyperpigmented 4mm lesion at 7'O clock position, conjunctival naevi at 3'O clock and 5 o clock hours close to limbus.
Right eye mass was excised and sent for histopathology examination. Histopathogy report revealed well differentiated squamous cell carcinoma
with extensive hyperkeratosis acanthosis and stromal invasion[Figure 2]. Post operative photogragh of the patient after excision of mass lesion is shown in Figure 3.
Figure 1: Fleshy mass arising from superior limbus covering the cornea of the right eye
Figure 2: Histopathology showing well differentiated squamous cell carcinoma
||Figure 3: Post operative photogragh after excision of mass lesion
Ocular surface squamous neoplasia (OSSN) includes a spectrum of diseases which range from mild dysplasia to conjunctival and corneal
intraepithelial neoplasia (CIN) and invasive squamous cell carcinoma (SCC). Pre-invasive OSSN lesions are classified as mild, moderate,
or severe, depending on the degree of involvement of the dysplastic epithelium. Mild dysplasia, or CIN grade I, is defined as dysplasia
confined to the lower third of the conjunctival epithelial thickness. Moderate dysplasia (CIN grade II) extends into the middle third, and
severe dysplasia (CIN III) to the upper third of the conjunctival epithelium. Full-thickness dysplasia of the epithelium is also referred to
as carcinoma-in-situ. The pathological basis for a diagnosis of pre-invasive OSSN is based on the identification of epithelial disarray and
abnormalities in maturation. In general, these conditions show an abrupt demarcation between neoplastic cells and the uninvolved benign epithelium.
Invasive OSSN or squamous cell carcinoma shows nests of infiltrating cells that have penetrated the epithelial basement membrane and spread into
the conjunctival stroma.
Xeroderma pigmentosum is inherited as an autosomal recessive disorder with a prevalence rate of 1:250,000. It occurs due to deficiency of the enzymes responsible for repairing ultraviolet radiation-induced DNA damage.1 It is characterized by multiple
pigmented spots, called freckles and larger atrophic lesions, and a glossy white thinning of the skin.2 Conjunctival and corneal
epithelial malignancies are seen more commonly in elderly and male patients, but may develop at a younger age, especially in association with
xeroderma pigmentosum or immunodeficiency. OSSN predominantly occurs in older males with an average age of 56 years.3 This patient
presented with OSSN at 6 years of age. Patients with XP are unable to repair the DNA that is damaged by ultraviolet rays. This can lead to
somatic mutations and development of cancerous cells. This inherent defect accounts for the increased susceptibility to OSSN and the younger age
at presentation.4 Some reports have noted a younger age in intraepithelial cases compared with invasive squamous cell
carcinoma.5 OSSN most commonly occurs at the limbus, as it is a transition zone and is prone to development of dysplasia.3
Conjunctival squamous cell neoplasms can cause significant ocular morbidity. Early diagnosis and intervention can prevent extensive
visual morbidity. Simple excision of conjunctival intraepithelial or invasive neoplasia has been reported to be associated with a 2450%
recurrence rate.3-6 Excision with intraoperative control of the surgical margins and adjunctive cryotherapy has been reported to
reduce recurrence rates to 12%.7-8 A majority of the patients of XP with OSSN develop recurrence of the tumor despite a meticulous
tumor excision and adjunctive cryotherapy. Fresh lesions may also be encountered during the follow-up examination of these patients. The
increased risk of recurrence of OSSN in patients of XP warrants a regular, meticulous follow-up with an ophthalmologist.
Conclusion: OSSN occurs predominantly in elderly, but in patients of Xerdoderma Pigmentosum it tends to occur at a younger age (6-22 years),
with a predilection for the limbal area. As XP patients have potential blinding complications, an ophthalmologist must be involved from the
beginning in the care of these patients. Awareness and prompt management with close follow up for ocular and cutaneous malignancy is warranted
in these patients.
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