An unusual presentation of neurotized congenital giant melanocytic nevus and type 1 neurofibromatosis: a diagnostic challenge

• Main Authors: Low, Qin Jian, Lim, Tzyy Huei, Lee, Ri An, Cheo, See Wee, Mohd Nasir, Noor ‘Ain, Bakrin, Ikmal Hisyam, Yap, Evelyn Wen Yee
• Format: Article
• Language: English
• Published: Faculty of Medicine and Health Sciences, Universiti Putra Malaysia 2022
• Online Access: http://psasir.upm.edu.my/id/eprint/98122/1/2022011912330354_MJMHS_1075.pdf; http://psasir.upm.edu.my/id/eprint/98122/; https://medic.upm.edu.my/upload/dokumen/2022011912330354_MJMHS_1075.pdf

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.