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Neurofibromatosis of lid and orbit in early childhood
Insights
Neurofibromatosis of the eyelid and orbit often presents in childhood, with common symptoms including unilateral swelling and ptosis. This condition, seen in 70% with cafe au lait patches, has a 6% risk of malignant transformation.
Area of Science:
- Ophthalmology
- Medical Genetics
- Pediatrics
Background:
- Neurofibromatosis is a genetic disorder affecting the nervous system, skin, and bones.
- Ocular and orbital manifestations of neurofibromatosis require long-term observation from early childhood.
- Understanding the natural history and clinical spectrum of eyelid and orbital neurofibromatosis is crucial for timely diagnosis and management.
Purpose of the Study:
- To analyze the long-term clinical course and outcomes of 50 patients with neurofibromatosis affecting the eyelid and orbit.
- To characterize the age of onset, common clinical presentations, associated dermatological findings, malignant transformation rates, and radiographic orbital changes.
Main Methods:
- A retrospective study of 50 cases of neurofibromatosis involving the eyelid and orbit.
- Patients were followed from early childhood for approximately 20 years.
- Data collected included age at presentation, lesion characteristics, associated systemic findings, malignant transformation, and orbital bony changes on X-ray.
Main Results:
- Presentation age varied, with significant cohorts diagnosed between 2-4 years (20%), 5-12 years (30%), and 13-17 years (30%).
- The most frequent presentation was unilateral orbital and upper lid swelling with ptosis (30%), often extending to the temporal region and cheek.
- Associated findings included cafe-au-lait patches (70%), multiple cutaneous neurofibromata (50%), and a 6% rate of malignant transformation to neurofibrosarcoma. Radiographic changes in the bony orbit were noted in 40% of cases.
Conclusions:
- Neurofibromatosis of the eyelid and orbit is a condition with a varied age of onset and presentation, often involving significant facial swelling and ptosis.
- The high prevalence of associated cutaneous findings underscores the systemic nature of neurofibromatosis.
- The observed rate of malignant transformation and bony orbit changes highlights the importance of vigilant monitoring and early intervention in affected individuals.
Abstract:
Fifty cases of neurofibromatosis of lid and orbit that were followed up from early childhood for about 20 years showed: 1. Age at which cases firstly seen by ophthalmologist in 10 percent at first, in 20 percent between two and four; in 30 percent betweeen five and 12; in 30 percent between 13 and 17; and in 10 percent after 17 years. 2. The most common lesion in a unilateral orbital and upper lid swelling with ptosis in 30 percent; with added swelling of temporal region and eyebrow in 30 percent; with added swelling of cheek in 30 percent. Only unilateral swelling at root of nose in four percent; eyebrow in two percent; or temporal atrophy in two percent. 3. Associated cafe au lait patches are found in 70 percent, and multiple neurofibromata of skin in 50 percent. 4. Malignant transformation to neurofibrosarcoma occurs in six percent. 5. X-ray changes of the bony orbit: absent in 60 percent; congenital since birth in 20 percent-the lesser and greater wings of the spehenoid bone are most commonly absent; and due to pressure of growing neurofibromatosis of orbit in 20 percent.