Kiedy dziecko z plamami „kawy z mlekiem” kierować bezpośrednio do hematologa dziecięcego, a nie do specjalisty neurofibromatoz?

Abstract

In a medical society awareness dermal cafè-au-lait spots (CALs) are commonly bound to neurofibromatoses (NF). Besides the prevalence of NF-1, reaching 1:2.5-3 thousands live births which placed the disease in a group of the most frequent monogenic traits of mankind, it is still only one among more than 80 clinical entities, where CALs are fundamental and diagnostic or insignificant and associated only symptom of the diseases. The aim of the article is to discuss the warning symptoms or disease conditions when urgent hematological consultation is warranted in a child with multiple CALs. Primary care specialists or pediatricians should than remember, that besides the possibility of consultation in centers providing differential diagnosis for children with multiple CALs and medical coordinated care centers for neurofibromatoses and related RASopathies, CALs are not only a stigma of neurofibromatoses and other RAS-opathies or phacomatoses, but a warning sign of other disorders warranted urgent or routine hematological consultation.