Background: Diagnosis of neurofibromatosis type I (NF-1) relies on the NIH consensus conference criteria. However, because of delayed penetrance, they are of limited value in infancy or early childhood. Less frequent signs, namely blue-red and fusco-ceruleus macules, may be clues for diagnosis.
Case reports: We report on two children, aged 2 1/2 and 5, in whom these cutaneous findings were present early in childhood. In addition, they had sufficient criteria for NF1.
Discussion: These cutaneous signs, although infrequently reported, are present early in life. Hence they may be useful clues for diagnosis of NF-1 in childhood.