Neurofibromatosis Type 1 Accompanied by Craniofacial Pain: Literature Review and Descriptive Case

Son, Chunghwan; Park, Ji Woon

doi:10.11607/ofph.1787

Cited by 5 publications

(3 citation statements)

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“…Phenotypical spectrum of the skeletal lesions described in NF1 was widely represented (tibial/sphenoid dysplasia, lordo/kyphoscoliosis, osteofibromas, pseudarthrosis) in the present cohort, and enriched by further clinical features not commonly reported (valgus knee/ft, pectus excavatum ) [ 12 ]. A clinical association has been found between patients carrying sphenoid dysplasia with those showing recurrent sinusitis, and neuroradiological findings of mucosal thickening of the sinuses [ 13 ]. We suggest that such facial skeletal alteration, involving the big and/or small wings of the bone with its subsequent distortion, may be the basis of local inflammation responsible for the clinical-radiological findings of sinusitis.…”

Section: Discussionmentioning

confidence: 99%

Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1

et al. 2018

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BackgroundThe aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (1:2500–1:3000 individuals). It is caused by mutations of the NF1 gene on chromosome 17ql1.2, with autosomal dominant pattern of inheritance and wide phenotypical variability. Café-au-lait spots (CALs), cutaneous and/or subcutaneous neurofibromas (CNFs/SCNFs), skinfold freckling, skeletal abnormalities, Lisch nodules of the iris and increased risk of learning and intellectual disabilities, as well as tumors of the nervous system and other organs are its main clinical features.MethodsThe preliminary group collected 168 subjects with clinical suspicion of NF1. They were evaluated following the National Institutes of Health (NIH) criteria for NF1, revised by Gutmann et al. 1997, integrated for 67 of them by molecular testing. According to these references, 112 of 168 patients were diagnosed as NF1. The sample was characterized by an equal sex ratio (57 males, 55 females) and age distribution ranging from 10 days to 60 years of age (mean age, 13 years).ResultsA wide spectrum of clinical features has been observed in our patients. Mutational analysis resulted positive in 51 cases (76%). Twenty-four mutations detected in our cohort have not been reported to date.ConclusionsThis study may contribute to a better definition of genotypic and phenotypic features of NF1 patients, with respect to further insights into the clinical characterization of the disease. In addition, an amplification of the spectrum of mutations in the NF1 gene has been documented.

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Section: Discussionmentioning

confidence: 99%

Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1

et al. 2018

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“…As a result of these symptoms, NF1 pain can arise throughout the body. NF1 case reports have shown NF1-related pain in the abdominal [44; 92], midscapular [89], rib head [17], lower back [34; 37], appendage [48], epigastric [60], ocular [57], craniofacial [97], neck [14; 99], temporomandibular and maxillary [97], distal thigh and leg [29; 68], pelvic [88], perineal, and urethral areas [6] (Figure 1). From the clinical cases alluded to in this review, it can be gathered that NF1-pain is most commonly associated with tumors, specifically in the form of nerve sheath tumors, gastrointestinal stromal tumors, or optic gliomas, and orthopedic problems such as bone deformationsthese complications are among the most common of NF1 symptoms.…”

Section: Nf1-induced Pain and Headache: Anatomy And Locationmentioning

confidence: 99%

“…Neurofibromatosis Type 1 (NF1) is an autosomal dominant disorder affecting 1 in 3000 to 4000 people, caused by mutations in the NF1 gene on chromosome 17 in humans [97].…”

Section: Introductionmentioning

confidence: 99%

Towards a neurobiological understanding of pain in neurofibromatosis type 1: mechanisms and implications for treatment

Bellampalli¹,

Khanna

2019

Pain

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Neurofibromatosis type 1 (NF1) is the most common of a group of rare diseases known by the term, “Neurofibromatosis,” affecting 1 in 3000 to 4000 people. NF1 patients present with, among other disease complications, café au lait patches, skin fold freckling, Lisch nodules, orthopedic complications, cutaneous neurofibromas, malignant peripheral nerve sheath tumors, cognitive impairment, and chronic pain. Although NF1 patients inevitably express pain as a debilitating symptom of the disease, not much is known about its manifestation in the NF1 disease, with most current information coming from sporadic case reports. Although these reports indicate the existence of pain, the molecular signaling underlying this symptom remains underexplored, and thus, we include a synopsis of the literature surrounding NF1 pain studies in 3 animal models: mouse, rat, and miniswine. We also highlight unexplored areas of NF1 pain research. As therapy for NF1 pain remains in various clinical and preclinical stages, we present current treatments available for patients and highlight the importance of future therapeutic development. Equally important, NF1 pain is accompanied by psychological complications in comorbidities with sleep, gastrointestinal complications, and overall quality of life, lending to the importance of investigation into this understudied phenomenon of NF1. In this review, we dissect the presence of pain in NF1 in terms of psychological implication, anatomical presence, and discuss mechanisms underlying the onset and potentiation of NF1 pain to evaluate current therapies and propose implications for treatment of this severely understudied, but prevalent symptom of this rare disease.

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Neurofibromatosis type 1: New developments in genetics and treatment

Wilson

John

Handler

et al. 2021

Journal of the American Academy of Dermatology

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Neurofibromatosis Type 1 Accompanied by Craniofacial Pain: Literature Review and Descriptive Case

Cited by 5 publications

References 0 publications

Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1

Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1

Towards a neurobiological understanding of pain in neurofibromatosis type 1: mechanisms and implications for treatment

Neurofibromatosis type 1: New developments in genetics and treatment

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