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Celiac disease and lamellar ichthyosis. Case study analysis and review of the literature.
[lamellar ichthyosis]
We
describe
a
5
-
year
-old
female
affected
by
lamellar
ichthyosis
,
diagnosed
in
the
first
month
of
life
,
who
attended
our
pediatric
clinic
for
Mycoplasma
pneumoniae
pneumonia
.
The
evidence
of
severe
osteoporosis
with
hyperparathyroidism
secondary
to
malabsorption
suggested
the
occurrence
of
celiac
disease
.
Endoscopy
with
multiple
duodenal
biopsies
revealed
total
villous
atrophy
.
The
child
started
a
gluten-free
diet
,
supported
by
oral
calcium
and
vitamin
D
.
After
1
-
year
follow-up
,
the
girl
showed
complete
normalization
of
bone
mineral
density
.
The
introduction
of
the
gluten-free
diet
did
not
lead
to
lesion
repair
,
but
the
child
reported
significant
improvement
of
her
quality
of
life
.
Diseases
Validation
Diseases presenting
"malabsorption"
symptom
cystinuria
homocystinuria without methylmalonic aciduria
lamellar ichthyosis
malignant atrophic papulosis
neonatal adrenoleukodystrophy
This symptom has already been validated