An unusual presentation of neurotized congenital giant melanocytic nevus and type 1 neurofibromatosis: a diagnostic challenge
Among the three subtypes of neurofibromatosis are type 1 and 2 neurofibromatosis and schwannomatosis, von Recklinghausen disease also known as type 1 neurofibromatosis has an autosomal dominant inheritance. It is the commonest form as and presents with numerous café-au-lait macules and neurofibromas...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Faculty of Medicine and Health Sciences, Universiti Putra Malaysia
2022
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| Online Access: | http://psasir.upm.edu.my/id/eprint/98122/ http://psasir.upm.edu.my/id/eprint/98122/1/2022011912330354_MJMHS_1075.pdf |
| Summary: | Among the three subtypes of neurofibromatosis are type 1 and 2 neurofibromatosis and schwannomatosis, von Recklinghausen disease also known as type 1 neurofibromatosis has an autosomal dominant inheritance. It is the commonest form as and presents with numerous café-au-lait macules and neurofibromas. Giant congenital melanocytic nevus (CGMN) on the other hand is characterized by a melanocytic proliferation that present at birth. CGMN develops due to a defective embryonic pigment cell (melanocyte) precursors development and are often present at birth. Giant congenital melanocytic nevus (CGMN) and type 1 neurofibromatosis may occur together rarely. Clinicians should be aware of the rare presentation of both CGMN and type 1 neurofibromatosis in a patient. |
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