Citation
Low, Qin Jian and Lim, Tzyy Huei and Lee, Ri An and Cheo, See Wee and Mohd Nasir, Noor ‘Ain and Bakrin, Ikmal Hisyam and Yap, Evelyn Wen Yee
(2022)
An unusual presentation of neurotized congenital giant melanocytic nevus and type 1 neurofibromatosis: a diagnostic challenge.
Malaysian Journal of Medicine and Health Sciences, 18 (1).
pp. 372-374.
ISSN 2636-9346
Abstract
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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