Reduction of cutaneous Neurofibroma number on face may improve QoL in individuals with neurofibromatosis type1: JAMA
Researchers have found that the presence and severity of cutaneous neurofibromas, especially those on the face, significantly lower the quality of life in individuals with neurofibromatosis type 1(NF 1). This result came from a broad study that aimed at estimating the correlation between some certain features of cNFs with quality of life (QoL). NF1 is a rare genetic disorder leading to significant morbidity. The study was recently published in JAMA Dermatology by Lin M.J. and colleagues.
cNFs are benign tumors that grow on the skin surface of NF1 patients and often may be the source of physical discomfort and emotional distress. The aims of the study were the development of a large, decentralized platform for NF1 patients and the study of how certain characteristics-number, size, location-of cNFs are associated with QoL, pain, and itch. By establishing a registry that included clinical survey data, photography, and genetic sequencing, the authors hoped to overcome some of the challenges in subject recruitment intrinsic to studying this rare condition and glean some insights into how therapeutic interventions may improve patient outcomes.
From May 2021 to December 2023, a decentralized and globally utilized platform was used for participant recruitment, individuals aged 40 years or above with NF1 and at least one cNF. They had survey data with photographs and genetic sequencing from 49 U.S. states and 12 countries of the world. The photographs of 583 participants were scored for 12 key features of cNF, including features about their general severity, number, size, facial severity, color, and subtypes. These features were then analyzed in relation to QoL outcomes assessed using the Skindex scale, with subdomains for symptoms, emotions, function, pain, and itch.
Results
The 583 participants included 384 (65.9%) females, of mean age 51.7 years, ranging from 40.0 to 83.0 years.
Impaired QoL, represented as higher overall Skindex scores, was related to female sex, overall severity, number of cNFs, and facial severity.
The number of cNFs and the presence of cNFs on the face had the greatest negative impact on QoL.
Even patients with less than 10 cNFs showed deterioration in QoL, demonstrating their important burden.
Besides QoL, increased number and severity were associated with higher levels of pain and itch, further increasing the impact on livelihood in these patients.
The conclusion derived from this study was that the number and severity of cutaneous neurofibromas, especially in the facial region, directly influence QoL in NF1 patients. Consequently, early intervention to reduce the number of cNFs would have maximum benefit among the patients. This offers not only an opportunity for a deeper understanding of the relationship between cNF features and QoL, but also of the effectiveness of a decentralized, photograph-validated approach to studying ultra-rare genetic diseases.
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