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Lamellar ichthyosis presenting as bilateral spontaneous corneal perforation.
[lamellar ichthyosis]
Lamellar
Ichthyosis
is
an
autosomal
recessive
,
inherited
skin
disorder
characterized
by
thickening
,
fissuring
and
scaling
of
the
skin
.
To
report
a
case
of
lamellar
icthyosis
and
highlight
the
importance
of
monitoring
corneal
health
in
these
patients
.
We
report
a
rare
case
of
bilateral
spontaneous
corneal
perforation
in
a
patient
with
lamellar
ichthyosis
.
The
patient
presented
with
complaints
of
diminution
of
vision
,
foreign
body
sensation
,
watering
and
discharge
in
both
of
his
eyes
for
the
last
three
months
followed
by
pain
and
redness
for
one
week
.
Visual
acuities
were
light
perception
in
both
the
eyes
.
Cicatricial
ectropion
was
seen
in
both
the
lower
eyelids
.
Corneal
perforation
was
seen
in
both
the
eyes
.
Lamellar
ichthyosis
was
diagnosed
on
the
basis
of
scaling
and
excessive
dryness
of
the
entire
body
skin
and
was
confirmed
by
skin
biopsy
.
Peneterating
keratoplasty
of
both
eyes
was
done
with
cataract
surgery
of
the
right
.
The
systemic
anti-
ichthyosis
therapy
was
started
.
Ectropion
of
the
right
eye
was
corrected
,
and
on
follow-up
at
three
months
,
the
patient
had
a
visual
acuity
of
4
/
60
and
CFCF
in
the
right
and
the
left
eye
respectively
.
In
patients
with
cicatricial
ectropion
and
dry
eye
secondary
to
ichthyosis
,
corneal
health
should
be
closely
monitored
because
of
the
perforation
risk
.
Diseases
Validation
Diseases presenting
"pain"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
aniridia
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
trochlear dysplasia
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wolf-hirschhorn syndrome
This symptom has already been validated
