Lisch Nodules are seen-
Ans. Is 'a' i.e., Neurofibromatosis I Neurofibromatosis type 1 -o Neurofibromatosis is a comparatively common hereditary disorder in which the skin, nevous system, bone, endocrine glands and sometimes other organs are at the sites of a variety of congenital abnormalities often taking the form of benign tumours.o The main feature of neurofibromatosis I is -Spots of hyperpigmentation andCutaneous and subcutaneous neurofibromatous tumours.Hyperpigmentation in Neurofibromatosis I takes two formsCafe -au- lait sootsQo These are patches of pigmentation and they appear shortly after birthQ and occur anywhere on the body.o They are light brown in colour (cafe - au - lait) and do not change in number as the patient ages but they increase in size during puberty\o Presence of more than six cafe - au - lait spots > 1.5 cm in size is considered diagnostic of Neurofibromatosis.FrecklesQo Neurofibromatosis I is also characterized by the presence of Freckles like or diffuse pigmentation of the axillae and other intertriginous areas (groin, under breast) and small round whitish spots. When coupled with cafe au lait patches they are virtually pathognomonicQ of the disease.NeurofibromasCutaneous tumourso They are situated in the dermis and form discrete soft or firm papules.o They are flesh coloured or violaceous and often topped with comedo. When pressed, the soft tumours tend to invaginaie through a small opening in the skin giving the feeling of a seedless raisin or a scrotum without a testicle. This phenomenon is spoken of as "button holding".Subcutaneous tumourso They take two forms -Firm discrete nodules attached to a nerve.Plexiform neuromasQ (overgrowth of subcutaneous tissue sometimes reaching enormous size and occur most often in the face, scalp, neck and chest and may cause hideous disfigurement).Lisch NoduleQo This is another unique finding of neurofibromatosisQ.o It is a small whitish spotQ present in the iris.
Neurofibromatosis I
Sturge weber's syndrome
Tuberous sclerosis
Von hippel lindau syndrome
Tumors of Nervous System