Bilateral Severe Ectropion and
Mature Cataract in Lamellar
Ichthyosis
Imtiyaz Ahmad Lone, Azra Rizvi,
Sheikh Sajjad Ahmad, Reyaz Ahmad
Untoo
INTRODUCTION
Lamellar ichthyosis is a rare type
of ichthyosis manifesting at birth
often encased in collodion membrane
and large thick scales all over the
body except mucous membrane and
lips. Bilateral ectropion is the
main ocular involvement in lamellar
ichthyosis.
Though
immature cataract has been reported
earlier in lamellar ichthyosis, we
have come across this case with
bilateral lower lid ectropion with
bilateral mature cataract. Mature
cataracts are seen in cases of sex
linked recessive ichthyosis.
CASE
REPORT
A 3 year old patient presented in
the eye OPD with scaling of the
skin, out-turning of lower eyelids
and inability to see with both
eyes. As per the parents history,
at birth the patient's skin was
covered with a shiny membrane all
over the body which desquamated and
led to peeling with scales. One
week after birth, ectropion of lower
lids was observed. It was
associated with redness of the eyes,
watering and discharge. Loss of
vision was observed at 2 years of
age with the presence of a white
pupillary reflex.
Fig.1:
Bilateral severe Ectropion and
Ichthyosis.
On
general physical examination the
patient was malnourished with a
weight of 9 kg, covered with tough
dry membrane with desquamation and
scales. The child followed light
and responded to sound stimuli
briskly. Mild pyoderma of the scalp
was present.
Ocular
examination revealed absence of the
eyebrows, presence of scales over
lid skin and eyelashes and grade III
ectropion in lower lids. conjunctiva
was congested and dry. There was
mature cataract in both eyes.
On the
basis of history and examination,
diagnosis of a collodion baby
developing into lamellar ichthyosis
was made.
The
diagnosis was confirmed by skin
biopsy. The patient was put on
intensive anti-ichthyosis therapy in
the form of frequent massage with
vaseline, glycerine, emollients and
keratolytics. Cephalexin, vitamin B
complex and vitamin- A was given in
appropriate dosages. Ocular
treatment included hourly
instillation of ciprofloxicin 0.3%
and methylcellulose 0.5% eye drops
and ciprofloxicin ointment at bed
time. The conjunctival congestion
subsided and the general condition
improved. The patient was posted
for cataract extraction with IOL
implantation under general
anesthesia.
Lens
aspiration with posterior chamber
IOL (+26.0D) in right eye was done
under general anesthesia. There was
no intra-operative complication.
Post - operatively patient was put
on topical antibiotics, steroids,
cycloplegics and tear substitutes.
Post-operative follow up for a
period of 6 months was uneventful.
DISCUSSION
Collodion baby is a term given to a
baby covered with a shiny membrane
all over the body except mucous
membrane and lips which gradually
desquamate with large thick scales
and mostly develops into lamellar
ichthyosis. Ichthyosis is a skin
disorder characterized by excessive
dryness of skin and increased
fromation of epidermal scales. The
four main types of ichthyosis are
ichthyosis vulgaris, sex-linked
recessive, lamellar ichthyosis and
epidermolytic hyperkeratosis.
Lamellar
ichthyosis is the rarest form with
an incidence of 1 in 3 lacs. It has
autosomal recessive inheritance and
there is a defect on chromosome
14q11 causing transglutaminase- I
defect. TG mutations might adversely
affect the formation of cross links
essential to formation of cornified
cell envelops' and normal stratum
corneum layer of the skin.
Ocular
manifestations of ichthyosis vary
according to the type of ichthyosis.
Scales on eyelashes and eyelids may
be seen in all varieties, however
the tight collodion membrane
covering the newborn and producing
ectropion of lids is
characteristically found in lamellar
ichthyosis. The ectropion may
respond to the conservative
management in early periods of life
in about half of the cases, while in
rest of the cases, extensive
ichthyosis may lead to severe
cicatricial ectropion as in our
case. Few cases of congenital
ichthyosis especially the X - linked
type have been reported as having
congenital cataracts, as in our
case, the patient presented with
bilateral mature cataract with
accurate perception and projection
of light.
REFERENCES
-
Jay
B, Blach RK, Wells RS. Ocular
manifestations of ichthyosis. Br
J Ophthalmol 1968; 52:217-226.
-
Severe RJ, Frost P, Weinstein G.
Eye changes in ichthyosis. JAMA
1968; 206:2283-2286.
Address for Correspondence
Dr. Imtiyaz Ahmad Lone, Deptt. of
Ophthalmology,
Medical College, Srinagar
