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THE
FACE
51
Tuberous sclerosis (epiloia),
an
autosomal dominant
disease,
is
characterized
by the
presence
of the red and
white,
firm and
discrete papules
of
angiofibromata
(1.259,
1.260)
(sometimes mistakenly called adenoma
sebaceum).
These
are
pathognomonic
of
this condition
but
appear late
in
infancy.
The
lesions
are
reddish, telangiectatic papules
with
a
yellowish tint, varying
from
1 to 3 mm in
diameter,
occurring mostly
on the
nasolabial
folds
and
cheeks.
Developmental
and
dysplastic lesions
are
found
in
other
organs
including the brain and kidney. The
principal
early
manifestations
are the
triad
of
seizures, mental retardation
and
facial
angiofibromata.
The
disease usually manifests
in
childhood
but a
mild form
may
present
in
adult
life.
Clus-
ters
of
skin-coloured
fibromata on the
nasolabial
folds
are
typical
(1.261).
The
presence
of
periungual
fibromas
(see
10.92,10.93)
aid the
diagnosis. Patients tend
to
have greasy
skin;
this
is
probably
the
reason
why the
angiofibromas
were
misnamed adenoma sebaceum.
Haemochromatosis
is a
common
and
easily overlooked
autosomal recessive genetic disorder. This
is
because
the
cumulative
iron deposition takes
a
long time (usually
to
the age of 40
years
or
over)
to
produce organ damage
and
there
are
very
few
early symptoms.
As
would
be
expected,
clinical
manifestations
are
more common
in
males
and in
postmenopausal women. Fatigue
is a
particularly distress-
ing
and
common symptom
and
there
may be
arthralgias,
abdominal discomfort, impotence
and
amenorrhoea.
The
skin
pigmentation
is
often striking. With
the
increasing
melanin
and
haemosiderin deposition,
the
skin
has a
slate-
grey
appearance
(bronzed diabetes)
in
over-exposed areas
such
as the
hands, neck
and
face
(1.262,1.263).
Other
mani-
festations
include hepatomegaly, portal cirrhosis, hypo-
gonadism
and
diabetes mellitus.
The
hyperpigmentation
of
haemochromatosis should
be
distinguished
from
that caused
by
transfusion
haemosiderosis
(1.264), chronic amiodarone therapy
(1.265, 1.266),
and
alcoholic cirrhosis, which causes both
iron overload
and
pigmentation. Some patients
on
long-
term amiodarone therapy develop
a
bluish
or
slate-grey
pigmentation (1.265) caused
by
amiodarone deposition.
A
1.258
Arcus
juvenilis
and
xanthelasmata
1.259
Tuberous
sclerosis:
confluent, small,
angiomatous
papules
1.260
Multiple
reddish
macules
and
papules
on
and
around
the
1.261
Clusters
of
skin-
coloured
and
reddish
papules
in
the
nasolabial
folds