Facial involvement of cutaneous neurofibromas represent largest quality of life impact

Key takeaways:

• Quality of life impairment was most associated with facial involvement and the number of neurofibromas.
• Minimizing number of neurofibromas rather than excising large tumors should be the treatment goal.

Patients with increasing numbers of cutaneous neurofibromas experienced a growing negative impact on their quality of life, especially if there was facial involvement, according to a study.

Neurofibromatosis type 1 (NF1) is a rare genetic disorder that affects 1 in 3,500 people, with more than 90% of those with NF1 developing cutaneous manifestations referred to as cNFs.

“The presentation of cNFs is highly heterogeneous, and cNFs can vary by number, subtype, color, size, symptoms and location on the body,” Michele Jade Lin, BS, an MD student in the department of dermatology at Stanford University School of Medicine, and colleagues wrote. “cNFs are also associated with greater psychological stress, negative body image and poorer quality of life (QoL) in people with NF1, and there is a need to better understand which features of cNFs to target to improve QoL in persons with NF1.”

To this end, the researchers conducted a study to evaluate the specific cNF features, such as itch, pain and emotional burden, that correlated with QoL impairments. A total of 583 patients (women, 65.9%; mean age, 51.7 years) aged at least 40 years were included in the study.

Results showed that the presence of facial cNFs as well as the number of cNFs had the strongest correlation to QoL scores as measured on the Skindex. However, this association plateaued between 100 and 500 cNFs, suggesting that impact on QoL did not extend beyond this number of cNFs.

Those with female sex and with greater cNF severity, as well as those with larger cNF tumors, also reported higher QoL impairment.

On the other hand, the study found that even those with lower disease burden, defined as having fewer than 10 cNFs, experienced decreased QoL, specifically in the emotional category. According to the authors, this finding demonstrates how the onset of symptomatic changes may elicit a stronger emotional burden than those who have been living with the disease for quite some time.

“These results suggest the benefit of early interventional removal of cNFs to minimize the number of cNFs (particularly on the face) rather than the approach of excising only large symptomatic lesions for the greatest association with QoL,” the authors wrote. “Additionally, these results highlight the need for further development of effective prevention and early treatment strategies.”