Neurofibromatosis type 1 and X-linked ichthyosis in a patient with a novel frameshift mutation in the NF1 gene.

Neurofibromatosis type 1 (NF1) is a group of hereditary diseases with an autosomal dominant inheritance, caused by mutations in the NF1 gene. These diseases are associated with the development of tumours in the central and peripheral nervous systems. NF1 manifests with cafe-au-lait macules (CALMs), axillary freckling, Lisch nodules on the iris, and predisposition to malignancy [1]. X-linked ichthyosis (XLI) is an X-linked recessive skin disorder caused by mutations in the steroid sulfatase (STS) [...]