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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/10.1590/1806-9282.60.02.002

Conflict 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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