Tumor associated with tuberous sclerosis is/ are-: (A) Renal angiomyoma, (B) Subependymal giant cell astrocytoma, (C) Rhabdomyoma heart, (D) All the above
Answer is D. Ans. is 'd' i.e.. All the above Tuberous SclerosisAutosomal Dominant Neurocutaneous DisorderCutaneous FeaturesNeurological FeaturesOther Featureso Hypopigmented macules/Ash-leaf spots# Seen in >90% of cases.# Are small, ovoid, scattered and variable in number.# Larger lesions are known as 'Ash-leaf spots as these may have jagged edges resembling a 'leaf'.o Shagreen Spots# Roughened, raised, leathery lesions with an orange peel consistency.o Adenoma Seacium# Facial skin hamartoma that develops in early childhood (~ 4-6 years of age).# Appears as tiny red nodules over nose and cheeks resembling acne.o Facial Angiofibromas/Ungual fibromas# Facial angiofibromas may seen ungula fibromas are more common in toes.o Cafe-an-lait spots# These may be seen occasionallyo Seizures# Seizrues are the most common presenting symptoms.# Infantile spasms may be the presenting feature during infancy.o Mental Retardation# Mental Retardation occurs inupto 50% of patients refered to tertiary care.# Patients with seizures are more prone to mental retardation,o Subependymal giant cell astrocytoma.o Renal Lesions# Renal cysts or angiomyolipomas may occur (Hematuria /obstructions)o Cardiac Lesions# Rhabdomyomas of the heart may occur.o Pulmonary Lesions# Lymphagiomyomatosis is the classical pulmonary lesion. Rarely cystic lung disease may occur.o Eye lesions# Retinal Hamartomas may occur.o Skeletal Lesions# Cystic rarefaction of the bones or the fingers of toes.