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Café-Au-Lait blettir

Valgerður Þorsteinsdóttir. Café-Au-Lait blettir. Bara neurofibromatosis?. Sporadic Neurofibromatosis Önnur heilkenni. Café-au-lait blettir. Litaðar maculur með vel afmarkaðar brúnir 1mm – 20 cm í þvermál Ljósbrúnar, litur svipaður „kaffi með mjólk“

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Café-Au-Lait blettir

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  1. Valgerður Þorsteinsdóttir Café-Au-Lait blettir

  2. Bara neurofibromatosis? • Sporadic • Neurofibromatosis • Önnur heilkenni

  3. Café-au-lait blettir • Litaðar maculur með vel afmarkaðar brúnir • 1mm – 20 cm í þvermál • Ljósbrúnar, litur svipaður „kaffi með mjólk“ • Aukning á melanin innihaldi melanocyta og keratinocyta

  4. Faraldsfræði • Algengt er að einn blettur sé til staðar við fæðingu: • 12% African American • 0,3% Caucasian • Tíðni þeirra eykst verulega þegar börn komast á skólaaldur

  5. Mismunagreiningar • Freknur • Lentigenes • Fæðingablettir • Becker nevus • Pigmentary mosaicism • Postinflammatory hyperpigmentation • Urticaria pigmentosa

  6. Uppvinnsla • Saga • Skoðun • Heilkenni? • 58-77% barna með fleiri en 5 café-au-lait bletti greinast með NF síðar á ævinni • Greiningarpróf?

  7. Neurofibromatosis 1 • Greiningarskilmerki (2 eða fleiri): • Sex eða fleiri café-au-lait >5mm í þvermál prepubertal • Tvö eða fleiri neurofibroma • Freknur í holhönd /nára • Glioma í optic pathway • Tveir eða fleiri Lisch hnútar • Beinbreytingar • Fjölskyldusaga (1° ættingi)

  8. Heilkenni • Neurofibromatosis týpa 1 og 2 • Multible familial café-au-lait • Legius syndrome • McCune-Albright syndrome • Ring chromosome syndromes • LEOPARD • Cowden syndrome

  9. Meðferð • Eftirfylgd vegna gruns um heilkenni eða með einstaklingum sem eru greindir. • Laser?

  10. Café-au-lait

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