Diffuse neurofibroma of the head and neck are rare tumours which have unique clinical and radiological findings. Presurgical diagnosis is important as these lesions are usually highly vascular and pre-operative embolisation can reduce the risk of intra-operative haemorrhage. In this article we describe four cases; two which underwent pre-operative embolisation, which should aid the reader in successfully diagnosing this entity before biopsy/surgery.
YooKHKimBJRhoYK, et al.A case of diffuse neurofibroma of the scalp. Ann Dermatol2009; 21: 46–48.
2.
PehWCShekTWYipDK. Magnetic resonance imaging of subcutaneous diffuse neurofibroma. Br J Radiol1997; 70: 1180–1183.
3.
HuangG.SHuangCWLeeHS, et al., Diffuse neurofibroma of the arm: mR characteristics. AJR Am J Roentgenol, 2005, 184:1711–1712.
4.
LeCBedocsPM. Neurofibromatosis. StatPearls, 2023.
5.
HassellDSBancroftLWKransdorfMJ, et al.Imaging appearance of diffuse neurofibroma. AJR Am J Roentgenol2008; 190: 582–588.
6.
NeedleMNCnaanADattiloJ, et al.Prognostic signs in the surgical management of plexiform neurofibroma: the children's hospital of Philadelphia experience, 1974–1994. J Pediatr1997; 131: 678–682.
7.
KwakSWHanYMParkYS. Diffuse neurofibroma presenting with spontaneous intra-tumoral hemorrhage. J Kor Neurosurg Soc2006; 39: 459–463.
8.
JonesR.GKiatiseviPMorrisDC, et al., Intravascular embolisation and surgical resection of a giant neurofibroma with intratumoural haemorrhage. Br J Radiol, 2010, 83:e225–e229.
9.
TanakaJKuramochiANishiN, et al.Preoperative transarterial embolization enhances the surgical management of diffuse plexiform neurofibroma: a case report. Cardiovasc Intervent Radiol2005; 28: 686–688.
10.
SleimanRKurbanMSuccariaF, et al., Poliosis circumscripta: overview and underlying causes. J Am Acad Dermatol, 2013;69:625–633.
11.
NeriILiberatiGPiracciniBM, et al.Poliosis and neurofibromatosis type 1: two familiar cases and review of the literature. Skin Appendage Disord2017; 3: 219–221.
12.
KoplonBSShapiroL. Poliosis overlying a neurofibroma. Arch Dermatol1968; 98: 631–633.
13.
KwonIHChoYJLeeSH, et al.Poliosis circumscripta associated with neurofibroma. J Dermatol2005; 32: 446–449.
14.
ParkSYKimHJAhnSK. Piebaldism with neurofibromatosis type I: a familial case. Ann Dermatol2014; 26: 264–266.
15.
ChiuYEDuganSBaselD, et al.Association of Piebaldism, multiple cafe-au-lait macules, and intertriginous freckling: clinical evidence of a common pathway between KIT and sprouty-related, ena/vasodilator-stimulated phosphoprotein homology-1 domain containing protein 1 (SPRED1). Pediatr Dermatol2013; 30: 379–382.
16.
ErgunSSEmelEAydnIH, et al.Extracranial diffuse neurofibroma with intracranial extension. Plast Reconstr Surg2000; 105: 801.
17.
EbrahimMAKAlMutairiMMHindiKM,et al.Diffuse neurofibroma in a patient with unknown history of NF1. Case Rep Otolaryngology2018; 2018: 8768472.
18.
SheerinUMHolmesPChildsL, et al.Neurovascular complications in adults with neurofibromatosis type 1: a national referral center experience. Am J Med Genet A2022; 188: 3009–3015.
19.
LarsonASBrinjikjiWAndersonKR, et al.Imaging of benign cervicofacial vascular anomalies and associated syndromes. Interv Neuroradiol2022; 28: 364–374.
20.
PereiraVMGeiprasertSLasjauniasP, et al.Extracranial vertebral artery involvement in neurofibromatosis type I: report of four cases and literature review. Interv Neuroradiol2007; 13: 315–328.
21.
DeansWBlochSLeibrockL, et al.Arteriovenous fistula in patients with neurofibromatosis. Radiology1982; 144: 103–107.
22.
KimSBrinjikjiWLanzinoG,et al.Neurovascular manifestations of connective-tissue disease: a review. Interv Neuroradiol2016; 22: 624–637.