H
ADDAD
LA
ET
A
L
.
94
r
Ev
a
SSoC
m
ED
B
raS
2014; 60(2):94-96
CorrESpondEnCE
Call for awareness of the updated diagnostic criteria and clinical
management for patients with tuberous sclerosis complex
A
LERTA
PARA
A
ATUALIZAÇÃO
DE
CRITÉRIOS
DIAGNÓSTICOS
E
CONDUTAS
CLÍNICAS
PARA
PACIENTES
COM
ESCLEROSE
TUBEROSA
L
uciana
a. H
addad
1,2*
, S
érgio
r
oSemberg
3
1
department of Genetics and Evolutionary Biology, institute of Biosciences, university of São paulo (uSp), São paulo, Sp, Brazil.
2
tuberous Sclerosis alliance international Scientiic advisory Board, Silver Spring, md, uSa.
3
department of pediatrics, division of pediatric neurology, School of medical Sciences of Santa Casa de São paulo (FCmSCSp), São paulo, Sp, Brazil.
*Correspondence:
university of São paulo – institute of Biosciences
department of Genetics and Evolutionary Biology
address: rua do matão 277, 327
São paulo, Sp - Brazil
Zip Code: 05508-090
phone: +55 11 3091-0971
Fax: +55 11 3091-7553
haddadl@usp.br http://dx.doi.org/10.1590/1806-9282.60.02.002Conflict of interest:
none
Tuberous sclerosis complex is a multi-system disorder
with autosomal dominant inheritance, caused by muta-
tions in either tumor suppressor gene
TSC1
or
TSC2
(
Tu-
berous Sclerosis Complex 1
or
2
). Its clinical diagnosis has
been based on the 1998 review of Gómez clinical criteria.
The 2012 International Tuberous Sclerosis Complex Con-
sensus Group, comprised of 79 specialists, re-evaluated
and updated the clinical criteria, based on a deeper un-
derstanding of the disease that took place in the past 15
years. We would like to draw the attention of the reader
to the two articles that have been recently published with
the recommendations updating the clinical criteria and
for the diagnosis, management and longitudinal follow-
-up of TSC patients (1, 2).
TSC diagnosis is basically clinical following the clas-
siication of the indings into either major or minor fea-
tures. Thereafter, three possibilities were possible: dei-
nite, probable or possible diagnosis of TSC. The 2012
review regrouped the clinical diagnosis into only two
categories, either deinite or possible TSC (Table 1). The
main alterations are cited as follows. Cortical tubers,
previously a major feature, and the minor feature cere-
bral white matter radial migration lines have been re-
classiied into a single major feature, cortical dysplasia.
Both are due to similar pathologic processes, and may
be associated to refractory epilepsy and learning disabi-
lities. Angiomyolipomas are fairly common among TSC
patients (approximately 80%). Although they have fre-
quently a renal location, other organs such as the liver
may also be affected. Therefore, at least two angiomyo-
lipomas constitute a major feature, however the renal
speciication is no longer needed for its classiication.
Due to the high speciicity of cardiac rhabdomyoma to
TSC, it remains as a major feature though it is not ne-
cessary to specify if single or multiple. Its prenatal or
neonatal identiication is very important for the diag-
nosis of the disorder, for which early intervention is
more likely to improve the prognosis. More than two
intraoral ibromas have replaced the gingival ibromas
as a minor feature, since the former comprises buccal,
labial and tongue ibromas besides the gingival site. Un-
gual and periungual ibromas have been reclassiied as
ungual ibromas, which have lost the post-traumatic de-
signation, and have gained a multiplicity characteriza-
tion (> 2). Dental enamel pits remain a minor feature,
currently as three or more pits, although multiplicity or
random distribution is no longer necessary for its clas-
siication. Shagreen patch has been maintained as a ma-
jor feature, nevertheless connective tissue nevus is not
associated with it because it may also occur isolated or
with other disorders. For angioibroma classiication as
a major feature, three or more lesions are necessary, as
it has been observed isolated in the general population
yet in a low frequency. Frontal ibrotic plaques have been
replaced by cephalic ibrotic plaque as it comprehends
the face and scalp. The non-renal hamartoma minor fea-
ture comprehends those from glands, digestive tract and
bones. Hamartomatous rectal polyps and bone cysts are
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