Transcript PHACOMATOSES 1. Neurofibromatosis • Type I (NF-1) - von Recklinghausen disease • Type II (NF-2) - bilateral acoustic neuromas 2.

PHACOMATOSES
1. Neurofibromatosis
• Type I (NF-1) - von Recklinghausen disease
• Type II (NF-2) - bilateral acoustic neuromas
2. Tuberous sclerosis (Bourneville disease)
3. von-Hippel-Lindau syndrome
4. Sturge-Weber syndrome
Neurofibromatosis type-1 - (NF-1)
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Most common phacomatosis
Affects 1:4000 individuals
Presents in childhood
Gene localized to chromosome 17q11
Café-au-lait spots
Appear during first year of life
Increase in size and number throughout
childhood
Fibroma molluscum in NF-1
Appear at puberty
• Pedunculated, flabby nodules consisting of
neurofibromas or schwannomas
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Increase in number
throughout life
• Frequently widely distributed
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Plexiform neurofibroma in NF-1
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Appear during childhood
Large and ill-defined
• May be associated with
overgrowth of overlying skin
Skeletal defects in NF-1
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Facial hemiatrophy
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Mild head enlargement - uncommon
Other - scoliosis, short stature, thinning of
long bones
Orbital lesions in NF-1
Optic nerve glioma in about 15%
Spheno-orbital encephalocele
• Sagittal MRI scan of optic nerve glioma • Axial CT scan of congenital absence of
invading hypothalamus
left greater wing of sphenoid bone
• Glioma may be unilateral or bilateral
• Causes pulsating proptosis without bruit
Eyelid neurofibromas in NF-1
Nodular
May cause mechanical ptosis
Plexiform
May be associated with glaucoma
Intraocular lesions in NF-1
Lisch nodules
Congenital ectropion uveae
Very common - eventually present
in 95% of cases
Uncommon - may be associated
with glaucoma
Choroidal naevi
Common - may be multifocal
and bilateral
Retinal astrocytomas
Rare - identical to those seen in
tuberous sclerosis
Ocular features of NF-2
Very common - presenile cataract
Common - combined hamartomas of RPE
and retina
Tuberous sclerosis (Bournevill disease)
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Autosomal dominant
Triad - mental handicap, epilepsy, adenoma sebaceum
Adenoma sebaceum
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Around nose and
cheeks
Appear after age 1
and slowly enlarge
Ash leaf spots
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Hypopigmented skin patches
In infants best detected using
ultraviolet light (Wood’s lamp)
Shagreen patches
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Diffuse thickening over
lumbar region
Present in 40%
Systemic hamartomas in tuberous sclerosis
Astrocytic cerebral hamartomas
• Slow-growing periventricular tumours
• May cause hydrocephalus, epilepsy and
mental retardation
Visceral and subungual hamartomas
Usually asymptomatic and
innocuous
• Kidneys (angiomyolipoma), heart
(rhabdomyoma)
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Retinal astrocytomas in tuberous scleritis
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Innocuous tumour present in 50% of patients
May be multiple and bilateral
Early
Semitranslucent nodule
White plaque
Advanced
Dense white tumour
Mulberry-like tumour
Systemic features of v-H-L syndrome
Autosomal dominant
CNS Haemangioblastoma
MRI of spinal cord tumour
Angiogram of cerebellar
tumour
Visceral tumours
• Tumours - renal
carcinoma and
phaeochromocytoma
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Cysts - kidneys, liver,
pancreas, epididymis,
ovary and lungs
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Polycythaemia
Retinal capillary haemangioma
in v-H-L syndrome
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Vision-threatening tumour present in 50% of patients
May be multiple and bilateral
Early
Tiny lesion between
Small red nodule
arteriole and venuole
Advanced
Associated dilatation and
Round orange-red mass tortuosity of feeder vessels
Complications of retinal capillary haemangioma
Leakage
Hard exudate formation
Exudative retinal detachment
Epiretinal membrane formation
Treatment options of retinal
capillary haemangioma
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Argon laser photocoagulation - small peripheral tumours
Cryotherapy - larger peripheral tumours
External beam radiotherapy - if unresponsive to cryotherapy
Before treatment - dilated feeder
vessels
Following treatment - normal
feeder vessels
Systemic features of Sturge-Weber syndrome
Naevus flammeus
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Congenital, does not blanche
with pressure
Associated with ipsilateral
glaucoma in 30% of cases
Meningeal haemangioma
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CT scan showing left
parietal haemangioma
Complications - mental handicap,
epilepsy and hemiparesis
Ocular features of Sturge-Weber syndrome
Glaucoma
May be associated with
episcleral haemangioma
Diffuse choroidal haemangioma
Buphthalmos in 60%
Normal eye
Affected eye