Oculocutaneous manifestations in xeroderma pigmentosa.

Abstract

Xeroderma pigmentosum (XP) is a rare genetic disease characterised by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation. The oculocutaneous features of 10 patients with XP were studied retrospectively. General features included parental consanguinity (40%), familiality (60%), onset of symptoms in first 2 years (50%), malignant skin neoplasms (60%), and carcinoma of the tongue (20%). Among the ocular features, 50% ofpatients presented with photophobia. Lid freckles or atrophic skin lesions were seen in all patients. Lower lid tumours were seen in 30%, chronic conjunctival congestion in 40%, corneal opacification in 40%, squamous celi carcinoma of limbus in 20%, bilateral pterygium in 40%, and visual impairment in 50%. The clinical features Departments of (ocular and cutaneous) of the cases are disOphthalmology and cussed.

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

“…[10] These malignancies are seen in 50 % of the patients in the first decade and SCC have double(4 %) metastatic potential compared to the normal population(2 %) [11]. Ocular malignancies are common in the lids, conjunctiva, and cornea as they are exposed as much as the facial skin whereas the deeper structures the eyelids, cornea and lens being shielded are lesser affected [12][13][14]. Photophobia is the earliest ocular symptom reported in 21 % and more marked in the younger than the adults [12][13][14].…”

“…Ocular malignancies are common in the lids, conjunctiva, and cornea as they are exposed as much as the facial skin whereas the deeper structures the eyelids, cornea and lens being shielded are lesser affected [12][13][14]. Photophobia is the earliest ocular symptom reported in 21 % and more marked in the younger than the adults [12][13][14]. Photophobia may be seen with keratitis or even with clear cornea.…”

“…Photophobia may be seen with keratitis or even with clear cornea. [12][13][14] The eyelid skin like other part of the facial skin shows pigmentation, atrophy, loss of lashes, ectropion and loss of lids due to malignant growth erosion [12][13][14]. Lids are involved in 80-100 % of the cases [12][13][14].…”

“…[12][13][14] The eyelid skin like other part of the facial skin shows pigmentation, atrophy, loss of lashes, ectropion and loss of lids due to malignant growth erosion [12][13][14]. Lids are involved in 80-100 % of the cases [12][13][14]. Pathologically altered melanocytes due to mutations accumulate and form cutaneous freckles and hyperpigmented spots [12][13][14].…”

“…Lids are involved in 80-100 % of the cases [12][13][14]. Pathologically altered melanocytes due to mutations accumulate and form cutaneous freckles and hyperpigmented spots [12][13][14]. The lesions in the lower eyelid are lesser compared to the upper as the upper lids form a shade to the lower [12][13][14].…”