Angiomatous and cerulodermic macules: early cutaneous signs of neurofibromatosis type i
Vabres, P.; de Lonlay, P.; Amiel, J.; Lyonnet, S.; Munnich, A.; de Prost, Y.
Annales de Dermatologie et de Venereologie 125(9): 593-594
1998
ISSN/ISBN: 0151-9638 PMID: 9805547 Document Number: 496990
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. 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. These cutaneous signs, although infrequently reported, are present early in life. Hence they may be useful clues for diagnosis of NF-1 in childhood.