This is a real-world medical entrance exam question, please give the true answer based on the question and selection. Topic name: Congenital Malformations and Perinatal Brain Injury, Subject name: Pathology
Ash leaf macules are seen in - 
Select and explain. 
A. Von Hippel-Lindau syndrome, B. Boumeville's disease, C. Neurofibromatosis, D. Sturge-weber syndrome
B: Boumeville's disease
Answer: B: Boumeville's disease 
Explanation: Ans. is 'b' i.e., Bourneville's disease o Ash-leaf shaped hypopigmented macules are characteristic of Tuberous sclerosis (Bourneville's disease).Tuberous sclerosis (Bourneville's disease)o Tuberous sclerosis is characterized by : -1. Cutaneous lesions - Adenoma sebaceum, ash-leaf shaped hypopigmented macules, shagreen patches, depigmented nevi.2. Seizures3. Mental retardationo Other features - Calcified subependymal nodules, Subependymal giant cell astrocytoma, ependymoma, Rhabdomyomas of the heart, and angiomyomas of the kidney, liver, adrenals and pancreas.Von Hippel - Lindau syndromeo This syndrome consists of Retinal, cerebellar and spinal hemangioblastoma.o Renal cell carcinoma, Pheochromocytoma, benign cyst of the kidney, liver, pancrease and epididymis may also occur.o Polycythemia may occur due to secretion of erythropoietin from hemangioblastoma.