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Journal Article


Nnomadim OP, Bustamante Helfrich B. Cureus 2021; 13(7): e16512.


(Copyright © 2021, Curēus)






Neurofibromatosis (NF) is an autosomal genetic disorder with three types, including NF1, NF2, and schwannomatosis. It is characterized by bulging and deforming masses arising from multiple nerves involving skin folds and connective tissues. Prompt diagnosis and provision of care for NF1 patients by clinicians aware of the diverse clinical features of this disorder are needed for optimum patient care and management. A 65-year-old African American female with a past medical history significant for multiple neurofibromas covering more than 95% of her total body surface area (TBSA), presented to a primary care clinic with an enlarged ulcerated neurofibroma of the right elbow. She reported associated pulsating, sharp pain, which was radiating to her entire right upper extremity. For most of her adult life, the lesion has been present and began as the rest of the neurofibromas on her body but gradually enlarged with eventual ulceration three months before the visit. The patient reported a failed surgical resection for the same neurofibroma several years ago. She also reported diffuse tenderness of the lesion, which severely impaired her daily living activities and limited her sleep ability. She acknowledged using multiple over-the-counter analgesics, prescription hydrocodone/acetaminophen 5/325 mg as needed, and gabapentin 300 mg orally twice daily but denied significant symptom alleviation. The patient was started on oral clindamycin hydrochloride 300 mg every six hours for 10 days and a topical mupirocin ointment 2% three times daily for five days. Subsequent visits showed no improvement of the ulcer, which necessitated a referral to wound care. After multiple wound care visits without progress, the patient was referred to a plastic surgeon for evaluation for repeat ulcer resection. NF1 patients develop multiple tumors (neurofibromas); approximately 8%-15% percent of them present with malignant peripheral nerve sheath tumors (MPNST) within the patient's lifetime. Tumor ulceration is a rare but possible complication of NF1. Due to the acute ulcerated fibromas' complications, previous unsuccessful cosmetic management, and ambiguity about NF1 disorder, the patient's quality of life was impaired. The physical and emotional pain the patient experienced impacted her activities of daily living and likely contributed to or exacerbated her diagnoses of substance use disorder and major depressive disorder. NF1 is incurable and can be associated with complications that deteriorate the quality of life, depending on symptom severity. The condition impacts patients' bodies, minds, and spirits, as seen in this patient who had diagnoses of substance use disorder and major depressive disorder, as well as a history of suicidal ideation and suicide attempts. The treatment of conditions related to NF1 is best managed in centers equipped with doctors experienced in treating patients with NF1. A multidisciplinary management approach is ideal. Preferably, for the management of chronic pain and beyond, the osteopathic holistic approach, targeting the body, mind, and spirit, in combination with other innovative non-pharmacotherapies and pharmacotherapy methods, would be beneficial.

Language: en


depression; chronic pain; neurofibroma; opioid-abuse; osteopathy


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