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Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review.
[lamellar ichthyosis]
Trichothiodistrophy
(
TTD
)
is
a
rare
autosomal
recessive
condition
that
is
characterized
by
a
specific
congenital
hair
shaft
dysplasia
caused
by
deficiency
of
sulfur
associated
with
a
wide
spectrum
of
multisystem
abnormalities
.
In
this
article
,
we
study
clinical
,
microscopic
,
and
ultrastructural
findings
of
20
patients
with
TTD
with
the
aim
to
add
further
insights
regarding
to
this
rare
condition
.
Additionally
,
analyses
of
our
results
are
compared
with
those
extracted
from
the
literature
in
order
to
enhance
its
comprehensibility
.
TWENTY
CASES
OF
TTD
WERE
INCLUDED
:
7
from
Mexico
and
14
from
Spain
.
Clinical
,
microscopic
,
scanning
electron
microscopy
(
SEM
)
studies
and
X-
ray
microanalysis
(
XrMa
)
were
carried
out
in
all
of
them
.
Genetic
studies
were
performed
in
all
seven
Mexican
cases
.
Patients
with
xeroderma
pigmentosum
and
xeroderma
pigmentosum
/
TTD-
complex
were
excluded
.
Cuticular
changes
and
longitudinal
crests
of
the
hair
shaft
were
demonstrated
.
These
crests
were
irregular
,
disorganized
,
following
the
hair
longest
axis
.
Hair
shaft
sulfur
deficiency
was
disposed
discontinuously
and
intermittently
rather
than
uniformly
.
This
severe
decrease
of
sulfur
contents
was
located
close
to
the
trichoschisis
areas
.
Only
five
patients
did
not
show
related
disturbances
.
Micro-
dolichocephaly
was
observed
in
five
cases
and
represented
the
most
frequent
facial
dysmorphism
found
.
It
is
also
remarkable
that
all
patients
with
urologic
malformations
also
combined
diverse
neurologic
disorders
.
Moreover
,
three
Mexican
sisters
demonstrated
the
coexistence
of
scarce
pubic
vellus
hair
,
developmental
delay
,
onychodystrophy
,
and
maxillar
/
mandibullar
hypoplasia
.
TTD
phenotype
has
greatly
varied
from
very
subtle
forms
to
severe
alterations
such
as
neurologic
abnormalities
,
blindness
,
lamellar
ichthyosis
and
gonadal
malformations
.
Herein
,
a
multisystem
study
should
be
performed
mandatorily
in
patients
diagnosed
with
TTD
.
Diseases
Validation
Diseases presenting
"dolichocephaly"
symptom
lamellar ichthyosis
This symptom has already been validated