Neurofibromatosis type 1 (NF1) gene: Beyond café au lait spots and dermal neurofibromas

A child with axillary freckling and café au lait spots.

Pulmonary stenosis, café-au-lait spots, and dull intelligence.

Of the many abnormalities that have been reported in association with multiple caf&-au-lait spots, congenital cardiac anomalies are extremely rare. The purpose of this paper is to report three families in which there were children with pulmonary valvular stenosis, who were mentally dull and also had cafe-au-lait spots inherited as an autosomal dominant, as in von Recklinghausen's disease (VRD)....

Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia

Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder, manifested with neurofibromas and Cafe´-au-lait spots. Germline mutations in NF1 gene are associated with Neurofibromatosis type 1. NF1 gene encodes neurofibromin, a RAS-specific GTPase activating protein. In our study, we present a clinical molecular study of four Chinese probands with NF1 from four...

T-Cell Lymphoma in a Patient with Neurofibromatosis Type 1 and AIDS

Neurofibromatosis type 1 (NF1) and AIDS are risk factors for the development of malignant neoplasms, including hematological malignancies, such as non-Hodgkin lymphoma. NF1 is an autosomal dominant disease that primarily manifests as café-au-lait spots, dermal neurofibromas, axillary and/or inguinal ephelides or freckles, plexiform neurofibromas, Lisch nodules, and bone deformities. In this rep...

A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation

A 33-year-old woman visited Ajou University Hospital with a history of multiple café-au-lait spots and skin neurofibromas. She had a family history of NF1; her grandfather, mother, aunt, and younger sister had been diagnosed with NF1 (Fig. 1). Her growth and development were normal, and she had no history of surgery. However, physical examination revealed multiple café-au-lait spots, axillary f...