John Libbey Eurotext

European Journal of Dermatology

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Neurofibromatosis type 1 and X-linked ichthyosis in a patient with a novel frameshift mutation in the NF1 gene Volume 26, numéro 5, September-October 2016

Illustrations

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Auteurs
Department of Dermatology, Xuan Wu hospital, Capital Medical University, 45 Changchun St, Xuanwu District, Beijing 100053, China
a Authors contributed equally

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 café-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) [...]