• TSC is an autosomal dominant disease arising from a
genetically programmed hyperplasia of ectodermal and
mesodermal cells and manifested by a variety of Lesions
in the Skin, CNS, heart, kidney and other organs.
• TSC = EPILOIA
• The characteristic triad is one of adenoma sebacum,
epilepsy and mental retardation
• The foci of tuberous sclerosis gene have been localized
to 9q and 16q.
a) Adenoma Sebaceum: reddish brown, smooth
dome shaped, papules 1-4 mm in size occur in a
symmetrical distribution over the nose, nasolabial
folds and cheeks.
b) Ash leaf spots are hypopigmented dull white
macules which are ovate or lance shape i.e., rounded
at one end pointed at the opposite end. Ash leaf
spots appear to be earliest cutaneous marker of
tuberous sclerosis and are present in about 85% of
patients with TSC.
c) Shagreen patch is a localized leathery, cobble
stoned, yellow brown plaque resembling pig skin
that is most often found in the lumbosacral area.
These are connective tissue naevi.
d) Periungual papules or nodules are Koenen’s
tumours (+) in TSC patients.
e) Dental enamel pitting, Focal poliosis
f ) Neurological findings: Seizures, mental retardation
(Hamartomas) children with onset of seizures under
the age of 2 years have an 80-100% chance of mental
g) Ophthalmic: Retinal (or) optic nerve hamartomas.
h) Genito urinary System: Renal hamartomas
Angiomyo lipomas are the most common renal
i) CVS: Multiple rhabdomyomas
j) Pulmonary: Localized cystic disease of lung
parenchyma and spontaneous pneumothorax.
k) Almost half of all individuals with TSC develop bone
anomalies – localized areas of sclerosis are most
often seen in the skull, spine and pelvis.