Earliest feature of tuberous sclerosis is?
Correct Answer: Ash leaf spot
Description: ANSWER: (C) Ash leaf spotREF: Harrison s 18th ed chapter 53 Repeat in December 2011"The earliest manifestation of tuberous sclerosis is Ash leaf spot"Some form of dermatological sign will be present in 96% of individuals with TSC. Most cause no problems but are helpful in diagnosis. Some cases may cause disfigurement, necessitating treatment. The most common skin abnormalities include:Facial angiofibromas ("adenoma sebaceum"): A rash of reddish spots or bumps, which appear on the nose and cheeks in a butterfly distribution. They consist of blood vessels and fibrous tissue. This socially embarrassing rash starts to appear during childhood and can be removed using dermabrasion or laser treatment. A recent publication indicates that topical rapamycin is helpful for treatment of facial angiofibromas.Periungual fibromas: Also known as Koenens tumors, these are small fleshy tumors that grow around and under the toenails or fingernails and may need to be surgically removed if they enlarge or cause bleeding. These are very rare in childhood but common by middle age.Hypomelanic macules ("ash leaf spots"): White or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. These are usually the only visible sign of TSC at birth. In fair-skinned individuals a Wood's lamp (ultraviolet light) may be required to see them.Forehead plaques: Raised, discolored areas on the forehead.Shagreen patches: Areas of thick leathery skin that are dimpled like an orange peel, usually found on the lower back or nape of the neck.Other skin features are not unique to individuals with TSC, including molluscum fibrosum or skin tags, which typically occur across the back of the neck and shoulders, cafe au lait spots or flat brown marks, and poliosis, a tuft or patch of white hair on the scalp or eyelids.
Category:
Skin
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