The use of electrodessication in the treatment of cutaneous neurofibromatosis: A retrospective patient satisfaction outcome assessment

Lutterodt, C.; Mohan, Arvind; Kirkpatrick, Niall

doi:10.1016/j.bjps.2016.03.024

Cited by 22 publications

(22 citation statements)

References 25 publications

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“…Second line treatments include radiofrequency ablation and electrodessication. Electrodessication is a useful tool as it enables the treatment of hundreds of neurofibromas in a single operation under general anesthesia, with low complication rates and high levels of clinical and patient-reported outcomes [53,54].…”

Section: Dermatological Manifestation Benign Manifestationsmentioning

confidence: 99%

Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966

Bergqvist

Servy

Valeyrie‐Allanore

et al. 2020

Orphanet J Rare Dis

118

113

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Neurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging between 1/3000 and 1/ 6000 people worldwide. The disease affects multiple systems with cutaneous, neurologic, and orthopedic as major manifestations which lead to significant morbidity or mortality. Indeed, NF1 patients are at an increased risk of malignancy and have a life expectancy about 10-15 years shorter than the general population. The mainstay of management of NF1 is a patient-centered longitudinal care with age-specific monitoring of clinical manifestations, aiming at the early recognition and symptomatic treatment of complications as they occur. Protocole national de diagnostic et de soins (PNDS) are mandatory French clinical practice guidelines for rare diseases required by the French national plan for rare diseases. Their purpose is to provide health care professionals with guidance regarding the optimal diagnostic and therapeutic management of patients affected with a rare disease; and thus, harmonizing their management nationwide. PNDS are usually developed through a critical literature review and a multidisciplinary expert consensus. The purpose of this article is to present the French guidelines on NF1, making them even more available to the international medical community. We further dwelled on the emerging new evidence that might have therapeutic potential or a strong impact on NF1 management in the coming feature. Given the complexity of the disease, the management of children and adults with NF1 entails the full complement healthcare providers and communication among the various specialties.

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Section: Dermatological Manifestation Benign Manifestationsmentioning

confidence: 99%

Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966

Bergqvist

Servy

Valeyrie‐Allanore

et al. 2020

Orphanet J Rare Dis

118

113

View full text Add to dashboard Cite

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“…Similar findings were reported in another retrospective study of six individuals with NF1 undergoing electrodessication. 95 Additional cNFs will appear over time and repeated treatments will be required. We are not aware of nonsurgical therapies for cNF.…”

Section: Neurofibroma Burden and Cosmesismentioning

confidence: 99%

Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Stewart

Korf

Nathanson

et al. 2018

Genetics in Medicine

135

121

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Patient education and sensitization to worrisome signs and symptoms such as progressive severe pain (MPNST), changes in tumor volume (MPNST), new, unexplained neurologic symptoms (MPNST, brain tumors), and diaphoresis/palpitations (pheochromocytoma) are important. Although many issues in adults with NF1 can be managed by an internist or family physician, we strongly encourage evaluation by, and care coordination with, a specialized NF1 clinic.

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“… 99 , 100 Other techniques have been applied for the removal of cNFs, including electrodessication and radiofrequency ablation. 100 – 102 Surgical/ablative approaches involve a risk of scarring and skin discoloration, 100 , 103 and surgical approaches are not practical in patients with numerous cNFs. These clinical deficiencies emphasise a need for novel, genomically guided therapies that are based on a greater understanding of the molecular and cellular mechanisms that underlie NF1-associated cNFs, and at the time of writing, nine interventional clinical trials were identified for cNFs (Table 1 ).…”

Section: Histology Origin and Pathogenesis Of Cnfmentioning

confidence: 99%

Cutaneous neurofibromas in the genomics era: current understanding and open questions

et al. 2018

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Cutaneous neurofibromas (cNF) are a nearly ubiquitous symptom of neurofibromatosis type 1 (NF1), a disorder with a broad phenotypic spectrum caused by germline mutation of the neurofibromatosis type 1 tumour suppressor gene (NF1). Symptoms of NF1 can include learning disabilities, bone abnormalities and predisposition to tumours such as cNFs, plexiform neurofibromas, malignant peripheral nerve sheath tumours and optic nerve tumours. There are no therapies currently approved for cNFs aside from elective surgery, and the molecular aetiology of cNF remains relatively uncharacterised. Furthermore, whereas the biallelic inactivation of NF1 in neoplastic Schwann cells is critical for cNF formation, it is still unclear which additional genetic, transcriptional, epigenetic, microenvironmental or endocrine changes are important. Significant inroads have been made into cNF understanding, including NF1 genotype–phenotype correlations in NF1 microdeletion patients, the identification of recurring somatic mutations, studies of cNF-invading mast cells and macrophages, and clinical trials of putative therapeutic targets such as mTOR, MEK and c-KIT. Despite these advances, several gaps remain in our knowledge of the associated pathogenesis, which is further hampered by a lack of translationally relevant animal models. Some of these questions may be addressed in part by the adoption of genomic analysis techniques. Understanding the aetiology of cNF at the genomic level may assist in the development of new therapies for cNF, and may also contribute to a greater understanding of NF1/RAS signalling in cancers beyond those associated with NF1. Here, we summarise the present understanding of cNF biology, including the pathogenesis, mutational landscape, contribution of the tumour microenvironment and endocrine signalling, and the historical and current state of clinical trials for cNF. We also highlight open access data resources and potential avenues for future research that leverage recently developed genomics-based methods in cancer research.

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The use of electrodessication in the treatment of cutaneous neurofibromatosis: A retrospective patient satisfaction outcome assessment

Cited by 22 publications

References 25 publications

Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966

Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966

Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Cutaneous neurofibromas in the genomics era: current understanding and open questions

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