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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
"pneumonia"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
allergic bronchopulmonary aspergillosis
alpha-thalassemia
classical phenylketonuria
cohen syndrome
congenital diaphragmatic hernia
heparin-induced thrombocytopenia
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
lamellar ichthyosis
legionellosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
oculocutaneous albinism
omenn syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
scrub typhus
severe combined immunodeficiency
triple a syndrome
waldenström macroglobulinemia
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated