[Tuberous sclerosis. Description of a family study].
We present tuberous sclerosis affecting all the members of a family, now and for three consecutive generations (probably four). A fortuitous study of cutaneous disease in one member led to diagnosis in all of them. A systematic study detected important visceral implication in all cases, mainly neurological, despite the fact only one of then showed related symptoms. We discuss the epidemiological and diagnostic aspects of an illness, which is widely underdiagnosed even today, despite the fact that detection is by sight.
Trinidad
J C
JC
Servicio de Medicina Interna, Hospital Juan Canalejo, La Coruña.
Iraburu
M
M
Martínez
A
A
Espiñeira
M
M
Bañales
T
T
Alvarez
I
I
D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000235:genetics*