Vol.14
No. 1, Januray, 2004
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.
