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

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Published: Mar 6, 2024
Keywords:
Neurotized Congenital Giant Melanocytic Nevus, Neurofibromatosis Type 1

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Qin Jian Low
Department of Internal Medicine, Hospital Sultanah Nora Ismail, Jalan Korma, Taman Soga, 83000, Batu Pahat, Johor, Malaysia.
Tzyy Huei Lim
Department of Internal Medicine, Hospital Sultanah Nora Ismail, Jalan Korma, Taman Soga, 83000, Batu Pahat, Johor, Malaysia.
Ri An Lee
Department of Radiology, Hospital Sultanah Nora Ismail, Jalan Korma, Taman Soga, 83000, Batu Pahat, Johor, Malaysia.
Seng Wee Cheo
Department of Internal Medicine, Hospital Lahad Datu, Peti Bersurat 60065, 91110, Lahad Datu, Sabah, Malaysia.
Noor ‘Ain Mohd Nasir
Department of Anatomical Pathology, Hospital Pakar Sultanah Fatimah Muar, Jalan Salleh, 84000 Muar, Johor, Malaysia.
Ikmal Hisyam Bakrin
Department of Pathology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, 43400 Serdang, Selangor, Malaysia.
Wen Yee Evelyn Yap
Department of Dermatology, Hospital Pakar Sultanah Fatimah Muar, Jalan Salleh, 84000 Muar, Johor, Malaysia

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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How to Cite
Low, Q. J., Lim, T. H., Lee, R. A., Cheo, S. W., Mohd Nasir, N. ‘Ain, Bakrin, I. H., & Yap, W. Y. E. (2024). 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), 372–374. Retrieved from http://mjmhsojs.upm.edu.my/index.php/mjmhs/article/view/250
Issue
Vol. 18 No. 1 (2022)
Section
Case Report

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