An Unusual Presentation of Neurotized Congenital Giant  Melanocytic Nevus and Type 1 Neurofibromatosis: A Diagnostic  Challenge

Qin Jian Low; Tzyy Huei Lim; Ri An Lee; Seng Wee Cheo; Noor &lsquo; Ain Mohd Nasir; Ikmal Hisyam Bakrin; Wen Yee Evelyn Yap

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An Unusual Presentation of Neurotized Congenital Giant Melanocytic Nevus and Type 1 Neurofibromatosis: A Diagnostic Challenge

Author: Qin Jian Low ¹ ; Tzyy Huei Lim ¹ ; Ri An Lee ² ; Seng Wee Cheo ³ ; Noor ‘Ain Mohd Nasir ⁴ ; Ikmal Hisyam Bakrin ⁵ ; Wen Yee Evelyn Yap ⁶
Author Information

1. Department of Internal Medicine, Hospital Sultanah Nora Ismail, Jalan Korma, Taman Soga, 83000, Batu Pahat, Johor, Malaysia
2. Department of Radiology, Hospital Sultanah Nora Ismail, Jalan Korma, Taman Soga, 83000, Batu Pahat, Johor, Malaysia
3. Department of Internal Medicine, Hospital Lahad Datu, Peti Bersurat 60065, 91110, Lahad Datu, Sabah, Malaysia
4. Department of Anatomical Pathology, Hospital Pakar Sultanah Fatimah Muar, Jalan Salleh, 84000 Muar, Johor, Malaysia
5. Department of Pathology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, 43400 Serdang, Selangor, Malaysia
6. Department of Dermatology, Hospital Pakar Sultanah Fatimah Muar, Jalan Salleh, 84000 Muar, Johor, Malaysia
Publication Type:Case Reports
Keywords: Neurotized Congenital Giant Melanocytic Nevus, Neurofibromatosis Type 1
From:Malaysian Journal of Medicine and Health Sciences 2022;18(No.1):372-374
CountryMalaysia
Language:English
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.
Full text:11.2022my1227.pdf