Xeroderma Pigmentosum: Clinicopathological Review of the Multiple Oculocutaneous Malignancies and Complications

Abstract

Multiple oculo-cutaneous malignancies are a common manifestation on sun-exposed facial areas in patients with Xeroderma pigmentosum (XP). Commonly seen are the basal cell carcinoma and the squamous cell carcinomas which manifest in the early first decade in contrast to fifth and sixth decade in the general population. XP manifests as photosensitivity, hyperpigmentation, premature skin aging and malignant changes like squamous cell carcinoma, basal cell carcinoma, fibrosarcoma and rarely malignant melanoma as well as internal malignancies. We report 11 cases of Xeroderma pigmentosa managed in our institute which included sex males and five females. All had photosensitivity, hyperpigmentation and consanguinity with facial malignant lesions like SCC and BCC. Ocular signs of photophobia and excessive lacrimation was seen in all the cases while blurring of vision due to corneal clouding, corneal injection, pterygium and limbal SCC were seen in 5 cases. SCC of the lids were seen in 7 cases while BCC seen in 8 cases and limbal and conjunctival SCC seen in one case. All were managed with excision while one case of melanoma with neck secondaries needed radical neck dissection while the other orbital exenteration. Oculo-cutaneous malignancies occur in the sun exposed areas so patients are advised regular follow up with speciality care. Awareness about the rare condition and importance of early detection and prevention of UV rays induced skin damage should be propagated. The disease is ultimately fatal, life can be prolonged by simple preventive measures to minimize sun exposure and early detection of the skin lesions and management.

Histological types of oculocutaneous malignancies in hereditary genodermatoses

“…BCCs generally grow slowly and rarely metastasize whereas SCCs grow fast, are invasive and have a higher rate of metastases. [4] SCC of the left eye was reported in a 20-year-old female XP patient [Case 1 - Figure 1a and b] who underwent excision along with enucleation of the right eye. She had no family history of cutaneous lesions.…”

“…Eyelids, cornea and conjunctiva protect the deeper structures of the eye; therefore, sun exposure is similar to that of facial skin which explains the higher frequency of malignancies reported involving these areas. [4] The spectrum of pathologic changes ranging from dysplasia to intra epithelial neoplasia and infiltrative neoplasms involving the cornea and conjunctiva are known as OSSN. XP affected individuals develop OSSN at a younger age and commonly involves the limbus as it is a transition zone and hence more prone to develop dysplastic changes.…”

“…Commonly encountered neoplasms include SCC, BCC, rarely malignant melanoma which develops at a younger age when compared to patients of BCC without any predisposing genetic diseases. [1][2][3][4] …”

Aspectos gerais do xeroderma pigmentoso: Uma revisão

“…Basicamente, a TCR-NER ocorre quando há um bloqueio à progressão da RNA (FELTES, 2014;HALKUD et al, 2014;OLIVEIRA et al, 2003).…”

Facial giant malignant melanoma in xeroderma pigmentosum

“…Though common, they require early intervention as these have a major impact on morbidity and mortality, especially with melanomas. Various squamous cell carcinomas, basal cell carcinomas, and melanomas have been described in the condition . Here we report a case of a 14‐year‐old female child with a clinical diagnosis of xeroderma pigmentosum presenting with a large growth on the left cheek.…”