Xeroderma pigmentosum presenting in two siblings from Uganda

A 10-year-old female presented to our global health outreach clinic in Uganda in May 2018 for evaluation of progressive pigmentary changes on the face and severe visual impairment. Cutaneous examination revealed a large area of mottled hypopigmentation involving the central nose and upper cutaneous lip. Ocular examination revealed corneal opacities involving the bilateral eyes. The dyspigmentation began during infancy and her vision progressively worsened since age 6. Her 3-year-old brother accompanied her and was noted to have similar dyspigmentation involving the face that had been present since 1 year of age. The family stated that both parents had direct relatives with similar cutaneous findings. Based on the clinical findings and family history, both patients were diagnosed with xeroderma pigmentosum (XP).

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