Xeroderma pigmentosum and its relation to ophthalmic neoplasm.
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Date
2020-03-08
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faculty of Basic Medical Science - Libyan International Medical University
Abstract
Xeroderma pigmentosum is a rare, autosomal recessive disease caused by defect in
DNA repair. Patients with xeroderma pigmentosum often have cutaneous and ocular
sun sensitivity, pigmented freckles, multiple skin and eye cancers. XP predominatly
affects the UV exposed ocular surface, resulting in eyelid atrophy, corneal dryness,
and conjunctival tumors. In this study, we experienced the tumors involving the
ocular surface from XP patient. Histo-pathological evaluation and
immunohistochemistry was preformed using antibodies against the most common
mutated genes in XP (XPA, XPC, and XPD). Sudanese male presented with
neoplasms involving the ocular surface: squamous cell carcinoma(SCC), conjunctival
abnormalities, including recurrent melanoma and nodular basal cell carcinoma(BCC)
of the eyelid.
Description
Xeroderma pigmentosum (XP) is a rare genetic disorder characterized by sever
hypersensitivity to ultraviolet (UV) light due to mutations in genes responsible for
DNA repair, that are involved in nucleotide excision repair (NER). XP is caused by
autosomal recessive mutations. In XP repair of UV-associated damage is impaired,
UV leads to dipyrimidine nucleotide products, which are recognized by the NER
pathways[1]. Unrepaired products in XP during replication lead to errors resulting in
the incorporation of a wrong nucleotide, resulting in characteristic C-to-T or CC-toTT mutations of UV damage[1,4]. Alterations in eight different genes have been
associated with XP; XPA, XPC, and XPD are the most common. XP disorder lead to
complete protein loss, and that the mutations may occur in many sites of different
genes, so the immunohistochemistry represents an attractive technique to identify the
possible aberrant gene in tissues from the patient.
Overall the clinical manifestations of XP are commonly seen in sun-exposed areas
such as skin, mucous membranes, and eyes, including the ones seen after a few
minutes after a sun exposure (blisters), pigmented freckles, ocular abnormalities, and
well known significant increased risk of developing neoplasia in these areas[2].
Ocular manifestations in patients with XP include photophopia, conjunctivitis,
ectropion, and neoplasia[5]. The spectrum of neoplasia affecting the ocular surface of
patients with XP has not been studied as cutaneous manifestations, but includes
squamous cell carcinoma (SCC), basal cell carcinoma (BCC), and malignant
melanoma (MM).
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