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Principles of Clinical Diagnosis
Published in Susan Bayliss Mallory, Alanna Bree, Peggy Chern, Illustrated Manual of Pediatric Dermatology, 2005
Susan Bayliss Mallory, Alanna Bree, Peggy Chern
McLaughlin ME, Jacks T. Neurofibromatosis type 1. Methods Mol Biol 2003; 222: 223–37 Task Force: Eichenfield LF, Levy ML, Paller AS, Riccardi VM. Guidelines of care for neurofibromatosis type 1. Academy guidelines. J Am Acad Dermatol 1997; 37: 625–30 Van Es S, North KN, McHugh K, De Silva M. MRI findings in children with neurofibromatosis type 1: a prospective study. Pediatr Radiol 1996; 26: 478–87
Successful treatment of ruptured extracranial carotid artery aneurysm and fistula associated with neurofibromatosis type1: Report of two cases
Published in Acta Oto-Laryngologica Case Reports, 2022
Ryutaro Onaga, Toru Sasaki, Tomohiko Yamauchi, Katsunari Namba, Ayuho Higaki, Akira Gomi, Hiroshi Nishino
Neurofibromatosis type 1 (NF-1) is inherited in an autosomal dominant manner and is basically benign unless associated with fatal complications. The main clinical features of NF-1 are ectodermal, and include café-au-lait macules, neurofibromas, and Lisch nodules [1]. Vascular abnormalities are minor complications of NF-1, which commonly involve cerebral blood vessels and renal arteries. Aneurysm of the carotid artery is rare and cases of NF-1-related ruptured aneurysms of other arteries have been treated by surgical ligation of the affected arteries [2–4]. Since ligation of the carotid artery could result in cerebral ischemia and infarction; some groups have recommended endovascular treatment [5,6]. We herein report two rare cases of NF-1 with ruptured extracranial carotid artery aneurysms who survived after optimal treatment that included endovascular procedures.
Physical therapy to address fall risk in an individual with neurofibromatosis
Published in Physiotherapy Theory and Practice, 2022
Robert B. Adams, Justin T. Dudley, Tamara S. Struessel
Neurofibromatosis (NF) is a genetic disorder characterized by the growth of tumors throughout the body due to dysfunction of tumor-suppressor genes (Kresak and Walsh, 2016). Neurofibromatoses are divided into three subtypes: 1) Type 1; 2) Type 2; and 3) Schwannomatosis, with 96% of cases being Type 1 (Kresak and Walsh, 2016). Neurofibromatosis Type 1 affects 1 in every 3500 people (Boyd, Korf, and Theos, 2009) and is not linked to race, ethnicity, or gender (Williams et al., 2009). NF Type 1 can lead to the growth of tumors in multiple tissues, including the central and peripheral nervous systems, skin, muscles, joints, and bones (Williams et al., 2009). The specific tissues affected by NF-related tumors determine how the disease presents and impacts the patient (Kresak and Walsh, 2016; Williams et al., 2009). While physical therapy intervention is not effective at modifying NF-associated tumors, it may be able to address associated impairments and activity limitations.
Circumventing the packaging limit of AAV-mediated gene replacement therapy for neurological disorders
Published in Expert Opinion on Biological Therapy, 2022
Lara Marrone, Paolo M. Marchi, Mimoun Azzouz
Neurofibromatosis type 1 (NF1, MIM 162200) is an autosomal dominant disorder associated with increased risk of tumor growth along nerves throughout the body. NF1 is caused by loss-of-function mutations in the NF1 tumor suppressor gene, which lead to hyperactivation of signaling pathways of cell proliferation and survival. Although the full-length NF1 cDNA is too large for packaging into a single AAV vector (8.5 kb), one of its encoded domains, called ‘GTPase activating protein-related domain (GRD),’ is thought to be sufficient to deactivate cellular proliferation pathways, and due to its small size (~1 kb), it can be contained within a single AAV vector. Bai and colleagues used a panel of AAV vectors to express various GRD constructs in malignant peripheral nerve sheath tumors as well as in human Schwann cells [112]. This led them to demonstrate that several AAV serotypes could inhibit proliferation (i.e. the Ras pathway) in test cells. In vivo work will be required to obtain full proof of concept for this gene replacement strategy.