Neurofibromatosis Type 1 of the head and neck: dilemmas in management

Neurofibromatosis type 1 (NF 1) or Von Recklinghausen’s disease is an autosomal dominant condition characterized by multiple skin cafe´-au-lait lesions and multiple neurofibromas. In the head and neck neurofibromas have a predilection to arise in th deep planes of the neck. Surgical management is nearly always required for functional or cosmetic reasons or to exclude the possibility of malignant transformation. We present four cases of neurofibroma of the head and neck and illustrate the difficulties inherent in managing this condition, particularly the age range in which it may occur, the risk of malignant transformation, the possibility of abnormal bleeding and the morbidity that may be associated with the surgical resection. The role of magnetic resonance (MR) scan in the assessment and monitoring of these lesions is highlighted. We also report a unique association of a pharyngeal pouch with NF 1 in a young (25-year-old) patient.

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Skeletal Complications in Neurofibromatosis Type 1: The Role of Neurofibromin Haploinsufficiency in Defective Skeletal Remodeling and Bone Healing in NF1

10.21236/ada468693 ◽

2007 ◽

Author(s):

Kevin P. McHugh

Keyword(s):

Bone Healing ◽

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type ◽

Skeletal Complications

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Lower fasting blood glucose in neurofibromatosis type 1

Endocrine Connections ◽

10.1530/ec-15-0102 ◽

2016 ◽

Vol 5 (1) ◽

pp. 28-33 ◽

Cited By ~ 8

Author(s):

Aline Stangherlin Martins ◽

Ann Kristine Jansen ◽

Luiz Oswaldo Carneiro Rodrigues ◽

Camila Maria Matos ◽

Marcio Leandro Ribeiro Souza ◽

...

Keyword(s):

Blood Glucose ◽

Neurofibromatosis Type 1 ◽

Fasting Blood Glucose ◽

Neurofibromatosis Type ◽

Control Group ◽

Adult Health ◽

Main Criterion ◽

Clinical Records ◽

Age Range

Studies indicate a lower occurrence of diabetes mellitus (DM) in patients with neurofibromatosis type 1 (NF1). Fasting blood glucose (FBG) level is the main criterion used to diagnose DM and glucose intolerance. Therefore, this study compared FBG level between adults with NF1 and non-NF1 controls. We selected clinical records of 57 out of 701 individuals attending the Neurofibromatosis Outpatient Reference Center of the Clinics Hospital of the Federal University of Minas Gerais in Brazil. The selected patients with NF1 were matched to non-NF1 controls selected from the Brazilian Longitudinal Study of Adult Health according to sex, age (range, 35–74 years) and BMI at a ratio of 1:3. In both groups, individuals with DM were excluded. Median FBG level in the NF1 group (86 mg/dl (range, 56–127 mg/dl)) was lower than that in the non-NF1 control group (102 mg/dl (range, 85–146 mg/dl)) (P<0.001). Prevalence of FBG level ≥100 mg/dl in the NF1 group (16%) was lower than that in the non-NF1 control group (63%) (P<0.05). The chance of a high FBG level was 89% lower in the NF1 group (odds ratio, 0.112; 95% CI, 0.067–0.188) (P<0.05). In conclusion, adults with NF1 showed a lower FBG level and a lower prevalence of high FBG level compared with non-NF1 controls.

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