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Xeroderma pigmentosum

Summary of Xeroderma pigmentosum
Xeroderma pigmentosum is a rare, autosomal recessive genetic disorder in which the mechanism of DNA repair is hindered by ultraviolet light damage. In extreme cases, all exposure to sunlight must be forbidden, no matter how small; as such, individuals with the disease are often colloquially referred to as "children of the night". Multiple basal cell carcinomas (basaliomas) and other skin malignancies frequently occur at a young age in those with xeroderma pigmentosum; metastatic malignant melanoma and squamous cell carcinoma are the two most common causes of death in victims.

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Xeroderma pigmentosum

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Xeroderma pigmentosum

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Preview

 An eight-year-old girl is brought to the office for a check-up. The patient is from Peru and she has a significant number of hyperpigmented, hyperkeratotic lesions on her face and on other sun-exposed areas of the body. Ophthalmic exam shows clouded eyes and corneal ulcers. Her parents say that she has had these lesions since infancy. She is otherwise healthy and playful. Which of the following is the most likely diagnosis?

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