Dermatology - Tuberous Sclerosis
Tuberous sclerosis is an autosomal dominant disease that shows up as sores on the skin and hamartomas in the brain, heart, kidneys, eyes, and other body parts. Seizures, mental retardation, and birthmarks called "white spots" are early signs. In 86% of cases, seizures (infantile spasms) happen, and in 49% of cases, mental retardation gets worse the earlier the seizures start. White bumps called hypomelanotic macules can be found on the body (more than 56%), lower limbs (more than 32%), upper limbs (7%), or head and neck (5%). They can be there at birth or as a baby. White magic beans shine with wood light. Usually, there are more than three. They can be triangular or "thumbprint" shaped, measuring 0.5 to 2 cm; lance-shaped, ovate, or "ash-leaf" shaped spots, measuring 3 to 4 cm (up to 12 cm); or small, white "confetti" macules, measuring 1 to 2 mm. Angiofibromas in the face are a sure sign of the disease, but they don't show up until the third or fourth year. They are smooth, dome-shaped, 0.1 to 0.5 cm across, red or skin-colored, hard bumps in the middle of the face. A "shagreen" patch made of connective tissue nevi shows up in 40% of cases. It looks like a skin-colored plaque on the back or buttocks. In 22% of cases that happen late in childhood, periungual papules or nodules show up. They are caused by angiofibroma, the same disease that causes face papules. If a baby or child only has one or two white macules, it may be hard or impossible to make a diagnosis. If you see more than five ash leaf macules, that's a strong sign. But even if you only see a few white "ash-leaf" or "thumbprint" macules, the diagnosis needs to be confirmed by family history, neuroimaging, and EEG, usually by a juvenile neurologist. Confetti spots are almost always a sign of a disease. For skin diseases, the differential includes vitiligo, nevus anemicus, tinea versicolor, nevus depigmentosus, postinflammatory hypomelanosis, syringomas, tricholemmomas, and dermal nevi. It is possible to mistake angiofibroma of the face for acne vulgaris or rosacea and treat it that way. Pediatric neurologists take care of most cases to handle intellectual and developmental disabilities and seizures. Angiofibromas can be helped by dermatological laser treatment.
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