Severe craniofacial deformity and mechanical ectropion in neurofibromatosis type 1

Neurofibromatosis (NF) refers to a group of genetic conditions involving the development of tumors that may affect the brain, spinal cord, and the nerves that send signals between the brain and spinal cord and all other parts of the body. Most tumors are non-cancerous (benign), although some may become cancerous (malignant).^[1] NF is classified into three types: NF type 1 (NF1), NF type 2 (NF2), and Lisch nodules in the eye. It has an autosomal dominant inheritance pattern and results from mutations in the NF1 gene on chromosome 17, which encodes the neurofibromin protein, a tumor suppressor.^[2] Among its various ophthalmic manifestations, mechanical ectropion due to extensive neurofibromas is a rare and severe presentation. Several options have been tested or are under investigation for treating NF tumors. Lisch nodules are the most common ophthalmic manifestation of NF1. Freckling is found in approximately 80–90% of the patients. Neurofibroma is seen in almost all NF1 patients over 30 years of age. The plexiform neurofibroma is seen in 25–30% of the cases.^[3] Ongoing clinical studies on drugs that block an enzyme that affects how some cells grow and develop, called mitogen-activated protein kinase, show promise in treating NF1-associated tumors, especially in children. Because schwannomas are particularly hard-to-treat tumors, National Institute of Neurological Disorders and Stroke researchers are developing and testing a new treatment option that uses a virus to kill tumor cells. Researchers are also testing chemotherapy drugs as treatments for NF2-related schwannomas.^[4]

This photo essay highlights a unique case where a large neurofibroma leads to extensive distortion of facial structures, including the eyelids, nose, and oral cavity. The right lower eyelid was pulled away from the globe due to the weight of the tumor, causing mechanical ectropion, exposure keratopathy, and visual impairment. This case underscores the multidisciplinary challenges in managing extensive neurofibromatosis involvement and highlights the importance of timely surgical and medical intervention.

A 51-year-old female patient presented to our outpatient department with complaints of progressively diminishing vision in her left eye (LE). She also reported mass growth from the lower portion of her face, excessive tearing (epiphora), irritation, and occasional ocular pain [Figure 1]. Her past medical history revealed a diagnosis of NF in early childhood, which has continued to progress. She had not undergone any medical or surgical intervention for the condition. Systemic history was unremarkable, with no associated systemic illnesses. On ocular examination, the extraocular movements were full, free, and painless in both eyes. The right eye (RE) exhibited notable adnexal abnormalities, including upper eyelid ptosis and significant lower lid ectropion, contributing to exposure-related symptoms. The cornea showed an epithelial defect likely secondary to mechanical ectropion and poor lid closure. The anterior chamber, iris, and pupil were normal in both eyes, with pupils’ round, regular, and reacting to light. The RE lens had an immature senile cataract, while the LE had a posterior chamber intraocular lens in situ. Vitreous and fundus examinations were unremarkable bilaterally. Intraocular pressures were 11.7 mmHg (RE) and 11.9 mmHg (LE).

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Figure 1:

Mechanical ectropion in the lower eyelid of right eye due to right facial neurofibromatosis.

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The best-corrected visual acuity (BCVA) in the RE was 6/36 with a refraction of +1.50D/–0.75DC × 100, and near vision was N18 with a +2.0D addition. The LE had a BCVA of 6/9 with –0.75DC × 90 and near vision of N6 with a +2.50D addition. Based on these findings, the diagnosis was mechanical ectropion with associated reactive changes in the RE and pseudophakia in the LE. The proposed management plan included RE cataract surgery, lateral tarsorrhaphy, and supportive medical therapy; the LE was managed conservatively with spectacles.

Mechanical ectropion in NF1 is a rare but serious consequence of extensive plexiform neurofibroma. Unlike age-related or cicatricial ectropion, mechanical ectropion occurs due to the sheer weight and mass effect of neurofibromatous growth, pulling the eyelids away from the ocular surface ^[4]. This results in inadequate tear film distribution, leading to dry eye and exposure keratopathy, chronic conjunctival thickening from prolonged exposure, and increased risk of corneal ulceration in severe cases. In addition, mechanical ectropion in NF1 can be accompanied by ptosis, facial asymmetry, and periorbital disfigurement, all of which contribute to both functional and psychological distress.^[5] The facial disfigurement, particularly around the nose and oral cavity, is consistent with large, unchecked plexiform neurofibromas. These lesions are notorious for being infiltrative, disfiguring, and challenging to excise completely, with a known risk for malignant transformation. The management of NF1-associated ectropion requires a multidisciplinary approach involving ophthalmologists, neurologists, geneticists, and plastic surgeons.^[6] Surgical intervention, such as lateral tarsorrhaphy or eyelid reconstruction, is often necessary to prevent corneal complications and improve the patient’s quality of life. Medical management, including lubricating eye drops and topical antibiotics, plays a crucial role in mitigating symptoms and protecting the ocular surface.

This case illustrates the rare but debilitating ocular and facial manifestations of NF1, where massive plexiform neurofibroma led to mechanical ectropion, ptosis, and severe craniofacial disfigurement. Early recognition of such presentations and timely surgical intervention is crucial to prevent permanent vision loss and improve the patient’s quality of life. A multidisciplinary approach is essential for managing the functional, cosmetic, and psychosocial challenges associated with NF1. Comprehensive photographic documentation and case reporting contribute valuable insights for clinicians encountering similar presentations.