| Literature DB >> 9805547 |
P Vabres1, P de Lonlay, J Amiel, S Lyonnet, A Munnich, Y de Prost.
Abstract
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.Entities:
Mesh:
Year: 1998 PMID: 9805547
Source DB: PubMed Journal: Ann Dermatol Venereol ISSN: 0151-9638 Impact factor: 0.777