<prompt> Lisch nodules Pigmented Iris hamartomas are seen inNiemann Pick diseaseNeurofibromatosisOchronosisGlycogen storage disease  <response>: Ans. b Neurofibromatosis Ref. Harrisons Internal Medicine 17th ed., Chapter 374; RRM 7th ed., p.316 Lisch nodules iris hamartoma and Optic gliomas NF-1. Glaucoma Sturge Weber syndome. Retinal angiomas VHL GlaucomaNEUROFIBROMATOSIS Autosomal dominant inherited disorder- pure neurofibromas tumor of nerve sheath with involvement of nerve, nerve fibers run through mass- neurilemmomas nerve fibers diverge and course over the surface of the tumor massa localized neurofibroma most common, 90b diffuse neurofibroma mostly solitary not associated with NF1c plexiform neurofibroma PATHOGNOMONIC of NF1Peripheral Neurofibromatosis 90 NEUROFIBROMATOSIS TYPE 1 von Recklinghausen disease autosomal dominant with abnormalities localized to the pericentromeric region of chromosome 17.- CLASSIC TRIAD:- Cutaneous lesions- Skeletal deformity- CNS manifestations CNS and ocular MANIFESTATIONS- Lisch nodules melanocytic iris hamartomas 2 mm in size- Optic pathway glioma- Hydrocephalus Aqueductal stenosis- Vascular dysplasia occlusion stenosis of distal ICA, proximal MCAACA- Plexiform neurofibromas are PATHOGNOMONIC for NF1- Erosion of bony elements with marked posterior scalloping SKELETAL MANIFESTATIONS in 25-40- Harlequin appearance to orbit empty orbit partial absence of greater and lesser wing of sphenoid orbital plate of frontal bone- Sharply angled focal kyphoscoliosis 50 in lower thoracic lumbar spine- Pseudarthrosis after bowing fracture particularly in tibia in 1st year of life Others:- Cafe-au-lait spots pigmented cutaneous macules 6 in number, 5 mm in greatest diameter; Coast of California.; Freckling.- Progressive pulmonary interstitial fibrosis with lower lung field predominance up to 20- Pheochromocytoma- Renal artery stenosis: very proximal- Malignant peripheral nerve sheath tumor - most common malignant abdominal tumor in NF1 