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Pathology General 8c173dc2

Ash leaf macules are seen in ?

A
Von Hippel-Lindau syndrome
B
Bourneville's disease
C
Neurofibromatosis
D
Sturge-weber syndrome
High-Yield Explanation
Ans. is `b' i.e., Bourneville's disease Ash-leaf shaped hypopigmented macules are characteristic of Tuberous sclerosis (Bourneville's disease). Tuberous sclerosis (Bourneville's disease) Tuberous sclerosis is characterized by : ? Cutaneous lesions --> Adenoma sebaceum, ash-leaf shaped hypopigmented macules, shagreen patches, depigmented nevi. Seizures Mental retardation Other features --> Calcified subependymal nodules, Subependymal giant cell astrocytoma, ependymoma, Rhabdomyomas of the hea, and angiomyomas of the kidney, liver, adrenals and pancreas. Von Hippel - Lindau syndrome This syndrome consists of Retinal, cerebellar and spinal hemangioblastoma. Renal cell carcinoma, Pheochromocytoma, benign cyst of the kidney, liver, pancrease and epididymis may also occur. Polycythemia may occur due to secretion of erythropoietin from hemangioblastoma

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