Figure Legend
Figure 1: Prevalence of NIH diagnostic signs (criteria) among patients presenting to ophthalmology clinic with Neurofibromatosis in a black African population
Figure 2: Distribution of plexiform neurofibromas in patients presenting with Neurofibromatosis in a black African population
Figure 3: Pigmentation in black African patients with NF1.
a-b : Café sans laît (CSLM) macules some of which are almost imperceptible (black arrow) against the dark skinned complexion.
c : Café au laît macules on the buttocks of 10 year old boy with NF1. A hypopigmented macule (laît) is indicated in this photograph, using double black arrows.
d : Hyperpigmented, somewhat hypertrophic, CALMs on the scalp of a 10-year-old boy with NF1. The scalp is an unusual location for CALMs in Caucasians and is usually spared (Friedmann, J.M., 2002)4
Figure 4- Hematoxylin and eosin stained sections- Histopathological findings of a typical plexiform neurofibroma from an eyelid nodule in an 11 year old female
(X40) Skin with enlarged dermal nerves, containing large nerve bundles.
B and C. (X100) Irregularly contoured and enlarged nerves.
D. (X400) Enlarged nerve with a cellular matrix containing fibroblasts, Schwann cells, collagen and mucin in the involved nerve.
Figure 5: a. Plexiform neurofibroma of the nose in a 12-year-old male.
b. Orbito-cranial plexiform neurofibroma causing proptosis in a 15-year-old female (below) notice also the plexiform neurofibroma of the left pinna and hyperpigmented macules.
c,d : Pseudoarthrosis and deformity of interphalangeal joint of 5th digit (digiti minimi quintis), of 15-year-old female with NF 1. Note: notice also unusual freckling (hyperpigmented macules) on both palms , this is also an rare site for CALMs in Caucasians (Friedmann, J.M., 2002)
e . Bone dysplasia causing lateral bowing of the tibia (above) notice the cutaneous neurofibroma on the contralateral leg f . Absence of the left lesser wing of the sphenoid (below) in the same 15-year-old female with NF1
Figure 6: a: Lisch nodules in the iris appearing as multiple raised flat-topped yellow spots in 12-year old female (seen without slit lamp) b: Lisch nodules seen with magnification, using slit lamp in a 45-year old woman, first degree relative. Notice the irregular but well circumscribed borders, this woman also has a nasal pterygium.
Figure 6 c,d: Fundus photograph showing bilateral optic atrophy in a 17-year-old male presenting with clinical features of neurofibromatosis 1, Brain MRI (Figure 9) showed bilateral optic-hypothalamic pathway glioma
Figure 6 e,f: Optic-hypothalamic pathway glioma in the 17 year old male presenting with neurofibromatosis and bilateral optic atrophy
Note : Abnormal hyperintensity and expansion of the optic tracts (6e ) and enlargement of the optic chiasm (6f ), worse on the left, are shown on low-field magnetic resonance imaging (0.4 Tesla) of the brain.
Table 1: Neuro-imaging diagnoses of patients with neurofibromatosis type1, showing recommendations for multidisciplinary management.