Esclerosis tuberosa. Enfermedad de Pringle Bourneville

Cortical blindness as severe neuro-ophthalmological manifestation of tuberous sclerosis complex

“…Other findings like cutaneous and renal manifestations are not uncommon, others like cardiac manifestations were seen in 1% of the cases [8]. One report of 100 patients with TSC between 2 to 76 years [9] showed that ophthalmic manifestations can be divided into retinal and non-retinal.…”

“…The clinical presentation includes hamartomas that usually compromise a great variety of systems, being CNS the most common, leading to seizures and mental retardation, depending on the localization of the tubers in the cortex and related closely with convulsive episodes [ 8 ], [ 9 ]. Other findings like cutaneous and renal manifestations are not uncommon, others like cardiac manifestations were seen in 1% of the cases [ 8 ]. One report of 100 patients with TSC between 2 to 76 years [ 9 ] showed that ophthalmic manifestations can be divided into retinal and non-retinal.…”

“…TSC is an autosomal dominant disorder with variable expression and incomplete penetrance, though two-thirds of patients have sporadic or de novo mutations. The prevalence is 1/5.800 to 1/15.000, therefore TSC is one of the most common genetic diseases [ 6 ], [ 7 ], [ 8 ], [ 9 ].…”

Fibroqueratoma periungueal adquirido en la edad pediátrica, a propósito de un caso

“…Se origina en el hiponiquio o en la piel de la zona dorsal o plantar, es típicamente superficial, protuberante o sésil, aunque puede crecer hacia adentro. Es un tumor que surge o está unido a la epidermis y se prolonga a la dermis, observándose además células cuboidales y conductos entre las mismas (29).…”

“…Pueden estar presentes al nacimiento o desarrollarse durante la infancia. La uña puede quedar deformada o levantada pero no es destruida (29,30). Y por último con los tumores de Koënen, que constituyen uno de los signos mayores de la esclerosis tuberosa y se encuentran en un 50% de los pacientes con esta enfermedad.…”