Neurofibromatosis type 1 presenting with tender enlarging plexiform neurofibroma in the lumbar region of an adolescent

Authors

  • Rameen Masood
  • Javeria Bushra Touqir
  • Hira Tariq Dermatology
  • Ashba Nasir Cheema
  • Saelah Batool
  • Faria Asad

Keywords:

Plexiform neurofibroma, Neurofibromatosis Type 1, Lumbar region, Malignant transformation

Abstract

Plexiform neurofibromas are soft tissue tumours that arise from peripheral nerves and are often seen in patients with Neurofibromatosis type 1 (NF1). We report a case of a 15-year-old girl with NF1 who presented with a painful, enlarging swelling extending laterally from the right lumbar region to the anterior chest wall. Multidisciplinary approach was undertaken; neurosurgeons and plastic surgeons were involved. This case emphasizes that early diagnosis and timely intervention can alter the long-term outcome in these patients.

References

Ferner RE, Gutmann DH. Neurofibromatosis type 1 (NF1): diagnosis and management. Handb Clin Neurol. 2013;115:939-55.

Korf BR. Plexiform neurofibromas. Am J Med Genet.1999;89:31-7.

Fisher MJ, Blakeley JO, Weiss BD, Dombi E, Ahlawat S, Akshintala S, et al. Management of neurofibromatosis type 1-associated plexiform neurofibromas. Neuro Oncol. 2022;24(11):1827-44.

Prudner BC, Ball T, Rathore R, Hirbe AC. Diagnosis and management of malignant peripheral nerve sheath tumors: Current practice and future perspectives. Neurooncol Adv. 2019;2(Suppl 1):i40-i49.

Tamura R. Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis. Int J Mol Sci. 2021;22(11):5850.

Yoo HK, Porteous A, Ng A, Haria K, Griffiths A, Lloyd A, et al. Impact of neurofibromatosis type 1 with plexiform neurofibromas on the health-related quality of life and work productivity of adult patients and caregivers in the UK: a cross-sectional survey. BMC Neurol. 2023;23(1):419.

Yao C, Zhou H, Dong Y, Alhaskawi A, Hasan Abdullah Ezzi S, Wang Z, et al. Malignant Peripheral Nerve Sheath Tumors: Latest Concepts in Disease Pathogenesis and Clinical Management. Cancers (Basel). 2023;15(4):1077.

Grover DSB, Kundra DR, Grover DH, Gupta DV, Gupta DR. Imaging diagnosis of plexiform neurofibroma- unravelling the confounding features: A report of two cases. Radiol Case Rep. 2021;16(9):2824-33.

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Published

2024-12-31

How to Cite

1.
Rameen Masood, Javeria Bushra Touqir, Hira Tariq, Ashba Nasir Cheema, Batool S, Asad F. Neurofibromatosis type 1 presenting with tender enlarging plexiform neurofibroma in the lumbar region of an adolescent. J Pak Assoc Dermatol [Internet]. 2024Dec.31 [cited 2025Feb.16];34(4 Suppl.):S134-S137. Available from: https://jpad.com.pk/index.php/jpad/article/view/2990

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