Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants

• Published in: Human genetics Vol. 141; no. 2; pp. 177 - 191
• Main Authors: Kehrer-Sawatzki, Hildegard, Cooper, David N.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.02.2022; Springer; Springer Nature B.V
• Subjects: Adults; Age; Biomedical and Life Sciences; Biomedicine; Brain Neoplasms - diagnosis; Cafe-au-Lait Spots - diagnosis; Child; Child, Preschool; Children; Colorectal Neoplasms - diagnosis; Diagnosis; Diagnosis, Differential; Diagnostic equipment (Medical); Families & family life; Family medical history; Female; Gene Function; Genes; Genes, Neurofibromatosis 1; Genetic disorders; Genetic screening; Genetic Variation; Genetics; Health aspects; Human Genetics; Humans; Infant; Infant, Newborn; Learning disabilities; Male; Metabolic Diseases; Molecular Medicine; Mosaicism; Neoplastic Syndromes, Hereditary - diagnosis; Neurofibromatosis; Neurofibromatosis 1 - diagnosis; Neurofibromatosis 1 - genetics; Neurofibromatosis 1 - pathology; Neurofibromin 1; Neurological disorders; Review; Tumors

Neurofibromatosis type 1 (NF1) is the most frequent disorder associated with multiple café-au-lait macules (CALM) which may either be present at birth or appear during the first year of life. Other NF1-associated features such as skin-fold freckling and Lisch nodules occur later during childhood whe...