Scalp hair whorl patterns in patients affected by Neurofibromatosis Type 1: A case-control study

Background: The hair whorl denotes the spiral disposition of hairs around an axis, which is determined by the follicle growing direction. Atypical variants of scalp hair patterns, identified by abnormally placed or multiple whorls, have been associated with early brain developmental disorders and several dysmorphic syndromes. Materials and Methods: A 6-month case-control, prospective monocentric study included an overall number of 557 children. A logistic regression analysis was performed to evaluate the relationship between localization, the number of scalp hair whorls, and their association with neurofibromatosis type 1 (NF1). Results: NF1 positively correlates with a frontal localization, whereas a negative association was found with a parietal whorl pattern (P < 0.001). Conclusion: Evaluation of scalp whorls gains importance in the neonatal settings and may contribute to suspect the early diagnosis of NF1, as the related National Institutes of Health diagnostic criteria cannot be usually observed at an early age.