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a case of fanconi anemia is reported, with typical cutaneous manifestations of diffuse hyperpigmentation and café-au-lait spots. he also presented thumb hypoplasia, short stature, cataract, hypoacusis, pelvic kidneys and chromosome breakage. presently 30-years-old, the patient is stable, with leukopenia and macrocytosis without clinical symptoms, in contrast to usual prognosis of this syndrome, which involves early death due to complications of bone marrow aplasia, leukemia and solid tumors.