Typical presentation of neurofibromatosis type I in a patient with giant cutaneous neoplasm and caf&eacute; au lait spots: A case report

Zhang,Chenguang; Saibaidula,Yilina; Luo,Yulou; Ou,Jianghua

doi:10.3892/br.2024.1905

Typical presentation of neurofibromatosis type I in a patient with giant cutaneous neoplasm and café au lait spots: A case report

Authors:
- Chenguang Zhang
- Yilina Saibaidula
- Yulou Luo
- Jianghua Ou
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Affiliations: Department of Breast Surgery, Affiliated Tumor Hospital of Xinjiang Medical University, Urumqi, Xinjiang Uyghur Autonomous Region 830000, P.R. China
Published online on: December 5, 2024 https://doi.org/10.3892/br.2024.1905
Article Number: 27
Copyright: © Zhang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Neurofibromatosis type 1 (NF1), which is also known as von Recklinghausen's disease, is a multisystem genetic disease that is principally associated with cutaneous, neurologic and orthopedic manifestations. The present case report described an unusual case with a giant cutaneous neoplasm on the right breast skin of a 36‑year‑old female who was admitted to the Department of Breast Surgery at the Affiliated Tumor Hospital of Xinjiang Medical University (Urumqi, China). Skin mass excision was performed and histopathology confirmed the diagnosis of thoracic plexiform neurofibroma as a primary presentation of NF1. The clinical implementation of NF1 therapies necessitates meticulous consideration of various factors and should involve a multidisciplinary team with expertise in NF1.

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