[Skin manifestations of Fanconi anemia]

Fanconi's anemia is a rare autosomal recessive disorder associated with variable clinical manifestations. So far, eight complementation groups have been identified, and the genes of four of them have been cloned. Early-onset progressive bone marrow failure and a predisposition to malignancies, particularly acute myelogenous leukemia, liver tumors, and mucocutaneous squamous cell carcinomas, result in a poor prognosis. Additionally, almost all organs can be affected by this defect. Widespread areas of hyper- and hypopigmentation of the skin in a characteristic pattern and café-au-lait spots preceding the manifestation of panmyelopathy can aid early diagnosis. Here we report an 11-year-old boy with Fanconi's anemia presenting with typical cutaneous manifestations. We emphasize the important role of skin abnormalities of Fanconi's anemia as signs enabling early diagnosis. Moreover, we summarize clinical features, course, therapy, and new aspects of the molecular basis of Fanconi's anemia.