Ashleaf spots are seen in: March 2007
Correct Answer: Tuberous sclerosis
Description: Ans. B: Tuberous Sclerosis Tuberous sclerosis/ tuberous sclerosis complex (TSC) is a rare, multi-system genetic disease that causes benign tumours to grow in the brain and on other vital organs such as the kidneys, hea, eyes, lungs, and skin. TSC is caused by mutations on either of two genes, TSC1 and TSC2, which encode for the proteins hamain and tuberin respectively. These proteins act as tumour growth suppressors, agents that regulate cell proliferation and differentiation. The physical manifestations of tuberous sclerosis are due to the formation of hamaia (malformed tissue such as the coical tubers), hamaomas (benign growths such as facial angiofibroma and subependymal nodules) and, very rarely, cancerous hamaoblastomas. Central nervous system Classic intracranial manifestations of tuberous sclerosis include subependymal nodules and coical/ subcoical tubers. Kidneys Between 60 and 80% of TSC patients have benign tumors (hamaomas) of the kidneys called angiomyolipomas (AML) frequently causing hematuria. Lungs Patients with TSC can develop progressive replacement of the lung parenchyma with multiple cysts. This process is identical to another disease called lymphangioleiomyomatosi (LAM). Hea Rhabdomyomas are benign tumors of striated muscle. Skin 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. - Ungual or subungual fibromas: Small fleshy tumors that grow around and under the toenails or fingernails. - 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 bih. 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. Eyes Retinal lesions, called astrocytic hamaomas, appear as a greyish or yellowish-white lesion in the back of the globe on ophthalmic examination.
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Skin
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