Abstract

ORTELLAO, L  and  RAMBALDO, L. Xeroderma pigmentosum: presentation of two cases. Arch. argent. pediatr. [online]. 2007, vol.105, n.5, pp.432-435. ISSN 0325-0075.

Xeroderma pigmentosum is a very rare entity with early manifestation in life, its diagnosis is clinical, and has an ominous prognosis. Here, we described two cases that reflect the evolutionary extremes of this disease. First case describes a 14 year-old boy with first symptoms at an early age, and currently under palliative care with hemorrhagic, metabolic, nutritional and sensory perception complications. Second case refers to a 3 year-old child, with hyperpigmented lesions without malignant transformation, whose present treatment is based on reducing ultraviolet light exposure. This entity represents a challenge for pediatricians, since they have to make an early diagnosis to delay the evolution of this serious disease, and to preserve, as much as possible, the patients quality of life.

Keywords : Xeroderma pigmentosum; Photosensitivity; Skin cancer.

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