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Difficult diagnoses in an austere environment: a clinical vignette ?the presentation, diagnosis, and management of ichthyosis.
[lamellar ichthyosis]
Lamellar
ichthyosis
(
LI
)
is
a
rare
inherited
skin
disorder
of
cornification
,
with
an
incidence
of
approximately
1
in
200
,
000
births
.
It
is
one
of
three
types
of
autosomal
recessive
congenital
ichthyosis
(
ARCI
)
,
a
collective
term
for
the
spectrum
of
nonsyndromic
ichthyoses
caused
by
a
number
of
well-described
genetic
mutations
.
We
describe
the
case
of
LI
diagnosed
in
a
10
-
day
-old
child
of
a
Somali
refugee
at
a
free
clinic
in
downtown
Djibouti
.
Initial
concern
was
for
staphylococcal
infection
versus
congenital
disease
.
With
the
use
of
digital
photographs
,
consultation
with
experts
accessed
through
the
Army
Teledermatology
Consultation
Service
supported
a
diagnosis
of
ARCI
.
Providing
care
to
patients
in
austere
environments
can
present
numerous
medical
challenges
.
A
provider
can
not
be
expected
to
be
able
to
diagnose
and
treat
every
disease
and
disorder
alone
,
especially
if
there
is
a
language
barrier
.
Telemedicine
can
help
close
the
gap
in
knowledge
,
particularly
when
presented
with
a
challenging
case
.
With
a
novel
presentation
,
simply
taking
a
photograph
and
e-mailing
a
consultant
can
quickly
augment
one
?
s
medical
acumen
,
ensuring
appropriate
diagnosis
and
treatment
.
Diseases
Validation
Diseases presenting
"ichthyosis"
symptom
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
junctional epidermolysis bullosa
kallmann syndrome
lamellar ichthyosis
This symptom has already been validated