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Ultrastructural examination of the axillary skin biopsy in the diagnosis of metabolic diseases.
[pyruvate dehydrogenase deficiency]
There
is
little
information
in
the
literature
regarding
the
usefulness
of
ultrastructural
examination
of
axillary
skin
biopsies
in
the
evaluation
of
metabolic
diseases
.
This
is
a
retrospective
clinicopathologic
review
of
143
patients
who
underwent
axillary
skin
biopsies
as
part
of
evaluations
for
metabolic
disease
.
Twenty
-
three
(
16
%
)
had
abnormalities
,
classified
as
follows
:
mitochondrial
(
n
=
12
)
,
lysosomal
(
n
=
6
)
,
increased
glycogen
(
n
=
3
)
,
nonspecific
cytoplasmic
inclusions
(
n
=
2
)
,
ceroid
lipofuscinosis
(
n
=
1
)
,
and
intradermal
giant
cells
containing
vacuoles
and
tubular
inclusions
(
n
=
1
)
.
Muscle
biopsies
were
performed
in
13
of
the
23
patients
;
11
showed
abnormalities
,
including
those
related
to
mitochondria
(
n
=
4
)
and
other
nonspecific
changes
(
n
=
7
)
.
Two
patients
underwent
postmortem
examination
.
Follow-up
was
available
in
21
patients
.
A
clinical
or
biochemical
diagnosis
was
reached
in
11
patients
:
metachromatic
leukodystrophy
(
n
=
2
)
,
electron
transport
chain
abnormalities
(
n
=
2
)
,
glutaric
aciduria
type
II
(
n
=
1
)
,
Unverricht
disease
(
n
=
1
)
,
Lennox-
Gastaut
syndrome
(
n
=
1
)
,
ketotic
hypoglycemia
of
childhood
(
n
=
1
)
,
probable
Leigh
disease
(
n
=
1
)
,
5
-
methyl
tetrahydrofolate
homocystine
methyltransferase
deficiency
(
n
=
1
)
,
and
pyruvate
dehydrogenase
deficiency
(
n
=
1
)
.
Of
the
120
patients
with
negative
skin
biopsy
results
,
29
had
abnormal
findings
on
muscle
(
n
=
27
)
,
nerve
(
n
=
7
)
,
or
brain
(
n
=
3
)
biopsies
.
One
patient
had
an
abnormal
heart
biopsy
result
,
and
3
patients
underwent
postmortem
examinations
.
Follow-up
was
obtained
in
27
of
29
patients
.
Diagnoses
were
achieved
in
15
patients
:
electron
transport
chain
abnormalities
(
n
=
5
)
,
cortical
dysplasia
(
n
=
3
)
,
myoclonic
epilepsy
(
n
=
1
)
,
leukodystrophy
(
n
=
2
)
,
Pallister-
Killian
mosaic
syndrome
(
n
=
1
)
,
Rett
syndrome
(
n
=
1
)
,
Landau-
Kleffner
syndrome
(
n
=
1
)
,
and
mitochondrial
cardiomyopathy
(
n
=
1
)
.
In
conclusion
,
axillary
skin
biopsy
is
helpful
in
the
evaluation
of
some
causes
of
metabolic
disease
,
but
often
the
findings
are
nonspecific
.
A
negative
biopsy
result
does
not
rule
out
the
possibility
of
metabolic
disease
,
but
a
positive
result
may
provide
direction
for
further
evaluation
.
Diseases
Validation
Diseases presenting
"skin biopsies"
symptom
cadasil
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
fabry disease
harlequin ichthyosis
junctional epidermolysis bullosa
kindler syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
omenn syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
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