Tiny Hyperpigmented Macule on Lower Lip

Abstract

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease, caused by a gene defect in the nucleotide-excision-repair (NER) pathway or translesional DNA synthesis. This DNA repair defect results in cellular hypersensitivity to ultraviolet (UV) radiation, clinically leading to photosensitivity, severe sunburn with blistering, persistent erythema on minimal sun exposure, marked freckle-like pigmentation of the face occurring usually before age 2 years, ocular involvement, premature skin aging and most importantly increased risk of sunlight-induced cutaneous neoplasms even in the first decade of life.

Herein we want to present a 9-year-old female patient who has xeroderma pigmentosum and multiple skin tumors on the face, concomitantly.

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