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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
"ichthyosis"
symptom
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
junctional epidermolysis bullosa
kallmann syndrome
lamellar ichthyosis
This symptom has already been validated