Distribution of diffuse plexiform neurofibroma on the body surface in patients with neurofibromatosis 1

• Published in: Journal of dermatology 2020-02, Vol.47 (2), p.190-192
• Main Authors: Ehara, Yuko, Koga, Monji, Imafuku, Shinichi, Yamamoto, Osamu, Yoshida, Yuichi
• Format: Article
• Language: English
• Subjects: Children; distribution; Economic impact; Genetic disorders; Head and neck; Limbs; Neurofibromatosis; neurofibromatosis 1; Neurological disorders; Plexiform neurofibroma; predilection body site; Quality of life; Recklinghausen's disease; selumetinib; Tumors
• ISSN: 0385-2407; 1346-8138
• DOI: 10.1111/1346-8138.15194

Neurofibromatosis 1 (NF1) is a genetic disease characterized by cutaneous, neurological and osseous abnormalities. Approximately 20% of patients develop plexiform neurofibroma (PN), resulting in impaired quality of life. To evaluate distribution of diffuse PN on the body surface, a retrospective study was conducted for 354 patients with NF1 from 2007 to 2018 in Japan. We investigated a total of 40 patients with clinically apparent superficial diffuse PN. In the cases evaluated, 57.4% of the diffuse PN were located on the trunk, 19.2% the head and neck, 12.8% the lower limbs and 10.6% the upper limbs. Remarkably, 75.0% of the diffuse PN were located on the dorsal side. The frequency was significantly higher on the trunk than on the head and neck (P = 0.026). Our findings provide useful information for giving attention to the high possibility of diffuse PN on the dorsal side before progression in childhood and for future treatment in NF1.