Massive Facial Plexiform Neurofibroma: An Unusual Presentation

Abstract

A 45-year-old male patient presented to the department with the chief complaint of overhanging folds of loose skin over the nose and left eye, and various round swellings on the face and throughout the body. The swelling had appeared 15-20 years ago and had gradually worsened over time. The patient reported suffering socially because of his condition. There was no relevant personal or family history, and he had no history of any co-morbidities. On examination, the swellings were of variable size, soft to firm, and non tender, located on the face and body. A colossal lesion originated from the left frontal region, with an overhanging skin mass concealing the left eye, nose, and maxillary area of his face, creating a disfiguring appearance [Table/Fig-1a]. However, upon elevation of the mass, the eye and nose were revealed to be perfectly normal, with unimpaired visual acuity, although the visual field was hampered [Table/Fig-1b]. A similar massive swelling was noted on the lateral aspect of the forehead [Table/Fig-1c]. The loose folds presented a staggering facial plexiform soft-tissue lesion, which is a hallmark of Neurofibromatosis Type 1 (NF1). Further examination unveiled the classic cutaneous manifestations of NF1, including café-au-lait macules, axillary freckling, and a multitude of cutaneous neurofibromas of varying sizes [Table/Fig-1d], with the largest measuring an astonishing 3×3 cm.

Keywords

• axillary freckles
• café-au-lait macules
• facial disfigurement