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)

Most common phacomatosis

Affects 1:4000 individuals
Presents in childhood
Gene localized to chromosome 17q11
Caf-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

Increase in number
throughout life
Frequently widely distributed

Plexiform neurofibroma in NF-1

Appear during childhood

Large and ill-defined

May be associated with

overgrowth of overlying skin

Skeletal defects in NF-1

Facial hemiatrophy

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)

Autosomal dominant
Triad - mental handicap, epilepsy, adenoma sebaceum

Adenoma sebaceum

Around nose and

cheeks
Appear after age 1
and slowly enlarge

Ash leaf spots

Hypopigmented skin patches

In infants best detected using
ultraviolet light (Woods lamp)

Shagreen patches

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)

Retinal astrocytomas in tuberous scleritis

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

Visceral tumours

MRI of spinal cord tumour

Tumours - renal
carcinoma and
phaeochromocytoma

Angiogram of cerebellar
tumour

Cysts - kidneys, liver,

pancreas, epididymis,
ovary and lungs

Polycythaemia

Retinal capillary haemangioma

in v-H-L syndrome

Vision-threatening tumour present in 50% of patients

May be multiple and bilateral
Early

Tiny lesion between

Small red nodule
arteriole and venuole
Advanced

Round orange-red mass Associated dilatation and

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

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

Congenital, does not blanche

with pressure
Associated with ipsilateral
glaucoma in 30% of cases

Meningeal haemangioma

CT scan showing left

parietal haemangioma
Complications - mental handicap,
epilepsy and hemiparesis

Ocular features of Sturge-Weber syndrome

Glaucoma

Buphthalmos in 60%

May be associated with

episcleral haemangioma
Diffuse choroidal haemangioma

Normal eye

Affected eye