Adenoma sebaceum & shagreen patches are seen in:
Correct Answer: Tuberous sclerosis
Description: Ans: b (Tuberous sclerosis) Ref:Harrison, 16th ed, p. 2457; Nelson, 17th ed, p. 2017TUberous sclerosisIt is a neurocutaneous syndrome (Phakomatoses). It is otherwise known as Boumeville disease.Neurological features of seizures and mental retardation together with cutaneous manifestations in the form of sebaceous adenomas are characteristic of the neurocutaneous syndrome of tuberous sclerosis.It is genetically determined autosomal dominant.Skin (cutaneous) involvement include:Adenoma sebaceum -facial angiofibromaAsh leaf shaped hypopigmented maculesShagreen patches - yellowish thickening of skin over lumbosacral region of back.Depigmented nevi.Neurological featuresEpilepsy, seizuresMental retardationHydrocephalusSubependymal nodules with calcification on neuroimaging is characteristic.Benign neoplasms associated with tuberous sclerosisRhabdomyoma of myocardiumAngiomyoma of kidney/ liver/pancreas/adrenals.Ependymomas and childhood subependymal giant cell astrocytomas.Note:Typical & most common site of subependymal giant cell astrocytoma is at or near the foramen of munro.(AIIMS, Nov 2007)
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