Neurofibroma axillary freckles and
There are multiple café-au-lait spots and neurofibroma. There are also
multiple freckles at the axilla. The eyelid may show ptosis or has abnormal
shape due to the presence of plexiform neuroma.
Proptosis in patient with absent lesser
sphenoid wing or optic glioma or
Lisch's nodules in the iris
Astrocytic hamartoma on the retina
Neurofibromatosis type I or type II, both
are autosomal dominant.
Type I is carried on chromosome 17q11.2
Type II on chromosome 22.
The diagnosis is clinical, and requires the
presence of Two or more of the following:
6 or more café-au-lait spots (diameter of 5 mm
in children and more than 15 mm in adults)
Two or more neurofibromas or one plexiform
Freckles in t he axilla or the inguinal region
Two or more Lisch's nodules
A distinctive osseous lesion such as sphenoid
dysplasia or thinning of long bone cortex with or
A parent, sibling or child with neurofibromatosis
according to the above criteria.
Right sided port-wine stain of the face
and ipsilateral tissue hypertrophy in
the distribution of the first and second
division of the trigeminal nerve
Left-sided port-wine stain with red eye due
to the presence of haemangioma of the
The iris may be involved causing heterochromic iridis.
Examine the anterior segment for hemangioma and the presence of trabeculectomy
Examine the posterior segment for glaucomatous disc and choroidal haemangioma (this is diffuse
and may cause exudative retinal detachment).
Unlike other Phakomatosis which has a
hereditary tendency, Sturge-Weber's
syndrome is a sporadic condition
These are caused by abnormal ectatic
vessels in the dermis.
Removal can be achieved with photo-
thermolysis using dye laser.
Look for ash-leaf patches (hypopigmented areas
which are best seen with Wood's light i.e.
Examine the fundus for astrocytic hamartoma
(Patients may have profound mental-retardation
making fundal examination difficult).
(which is usually distributed in a
butterfly pattern over the central face)
(these are localized
thickening of the skin with a
There are hypopigmented
patches which show
(the condition is associated
with auto-immune disorders
and may be seen in a
variety of conditions which
can have ocular association)
disease (in patient with
uveitis, exudative retinal
detachment and poliosis)
(in patients with unilateral
panuveitis and contralateral
Thyroid eye disease
Typical facial feature in acne rosacea Cornea neovascularization in
The face is red with telangiectasia, papules and pustules found mainly on the
nose, cheeks and chin. The nose may have irregular thickening of the skin with
large follicular orifices (rhinophyma).
Look for: Blepharitis, meibomian gland dysfunction, keratitis.
Acne rosacea is a common skin condition of
Ocular involvement is common but most tend to
Ocular problems is more severe in males
Eyelids show blepharo-conjunctivitis sometimes
with thick meibomian secretion (chalazion may
There may be scars on the tarsal conjunctiva
suggesting previous recurrent chalazion.
The cornea show pannus with or without
peripheral corneal thinning.
There are subepithelial opacities especially
The lid problems include blepharitis and chronic
Lid hygiene and hot compresses are needed to keep the
In severe cases, oral doxycycline is useful for a period
of 6 weeks but some patients may need the treatment
for much longer.
The cornea problems are related to dry eyes,
neovascularization and peripheral ulceration.
Dry eyes can be controlled with lid hygiene and artificial
Neovascularization results from chronic corneal
inflammation, and low dose steroid is useful but should
be used with care due to the risk of perforation.
Peripheral ulceration may result from Staphylococcal
hypersensitivity and the treatment involve lid hygiene
and low dose combination of steroid and antibiotic.
has the tendency for
binding to growing
structures that require
teeth and bones). These
can result in unsightly
staining of the teeth,
dental hypoplasia and
should be avoided in
pregnant women and
young children. It is also
contraindicated in breast
feeding women as the
drug is secreted in
A 3-month pregnant
severe blepharitis and
keratitis secondary to
How would you treat