Craniofacial neurofibromatosis: treatment of the midface deformity
Dhruv Singhal1, Yi-Chieh Chen1, Yueh-Ju Tsai2
1Chang Gung Craniofacial Center, Department of Plastic and Reconstructive Surgery, Chang Gung Memorial Hospital, Chang Gung University, Taiwan.
Abstract:
Craniofacial Neurofibromatosis is a benign but devastating disease. While the most common location of facial involvement is the orbito-temporal region, patients often present with significant mid-face deformities. We reviewed our experience with Craniofacial Neurofibromatosis from June 1981 to June 2011 and included patients with midface soft tissue deformities defined as gross alteration of nasal or upper lip symmetry. Data reviewed included the medical records and photobank. Over 30 years, 52 patients presented to and underwent surgical management for Craniofacial Neurofibromatosis at the Chang Gung Craniofacial Center. 23 patients (43%) demonstrated gross mid-facial deformities at initial evaluation. 55% of patients with lip deformities and 28% of patients with nasal deformities demonstrated no direct tumour involvement. The respective deformity was solely due to secondary gravitational effects from neurofibromas of the cheek subunit. Primary tumour infiltration of the nasal and/or labial subunits was treated with excision followed by various methods of reconstruction including lower lateral cartilage repositioning, forehead flaps, free flaps, and/or oral commissure suspension. Soft tissue deformities of the midface are very common in patients with Craniofacial Neurofibromatosis and profoundly affect overall aesthetic outcomes. Distinguishing primary from secondary involvement of the midface assists in surgical decision making.
Insights
Craniofacial Neurofibromatosis often causes mid-face deformities, with many cases resulting from secondary gravitational effects rather than direct tumor invasion. Understanding this distinction is key for effective surgical treatment and improved patient outcomes.
Area of Science:
- Plastic Surgery
- Craniofacial Surgery
- Oncology
Background:
- Craniofacial Neurofibromatosis (NF1) is a genetic disorder causing benign tumors, frequently affecting facial structures.
- Mid-face deformities, particularly involving the nose and upper lip, significantly impact patient aesthetics and quality of life.
Observation:
- A retrospective review of 52 Craniofacial Neurofibromatosis patients over 30 years identified 23 with significant mid-face deformities.
- Secondary gravitational effects from cheek neurofibromas caused deformities in 55% of lip and 28% of nasal cases, without direct tumor involvement.
Findings:
- Distinguishing between primary tumor infiltration and secondary gravitational effects in mid-face deformities is crucial for surgical planning.
- Surgical management varied based on deformity type, including tumor excision and reconstruction techniques like cartilage repositioning and various flap methods.
Implications:
- Accurate diagnosis of deformity origin guides surgical strategy, optimizing aesthetic and functional results in Craniofacial Neurofibromatosis patients.
- Further research into reconstructive techniques tailored to secondary deformities could enhance patient outcomes.
