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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
"bone mineral density"
symptom
achondroplasia
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
aromatase deficiency
congenital adrenal hyperplasia
cushing syndrome
dentinogenesis imperfecta
erythropoietic protoporphyria
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
kallmann syndrome
lamellar ichthyosis
phenylketonuria
primary hyperoxaluria type 1
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