Children with tuberous sclerosis (tuberous sclerosis complex, | Paediatrics videos & books

Children with tuberous sclerosis (tuberous sclerosis complex, TSC) can develop nasolabial fold angiofibromas (commonly referred to adenoma sebaceum). These can be mistaken for acne in an adolescent and is seen in over 80% of adolescents with TSC. Other cutaneous findings include peri- and subungual fibromas, ash leaf spots (hypomelanocytic macules), and shagreen patches. Skin findings are seen in 75% of cases of tuberous sclerosis. Tuberous sclerosis can also have CNS cortical defects and “tubers,” which may be foci of seizure activity. The “tubers” have a classic periventricular distribution. Mental retardation is very common in varying degrees. Sturge-Weber syndrome (also known as leptomeningeal angiomatosis) is a port wine stain, typically with V1 or V2 distribution, with an underlying leptomeningeal blood vessel dysplasia. These dysplastic vessels will typically result in an underlying cortical atrophy. This cortical atrophy can be a nidus for seizures and can be seen on a CT scan of the head. Neurofibromatosis, type 1 is polymorphous neurocutaneous syndrome. The most common findings are café au lait spots, which may be present at birth and worsen during puberty.Beckwith-Wiedemann syndrome and CHARGE association are discussed further in explanations 44 and 45.