Lam Hui Yuan, Harun Nor Rashid Shawaltul Akhma Bt
Reconstructive Science Unit, Hospital Universiti Sains Malaysia, Kelantan, MYS.
Plastic and Reconstructive Surgery, Hospital Raja Perempuan Zainab II, Kelantan, MYS.
Cureus. 2022 Mar 14;14(3):e23141. doi: 10.7759/cureus.23141. eCollection 2022 Mar.
Neurofibromatosis type one (NF-1) is an autosomal dominant neurocutaneous disorder also known as Von Recklinghausen disease. Plexiform neurofibroma is a rare kind of NF-1 where the neurofibroma originates from nerve sheath cells or subcutaneous peripheral nerves. It is pathognomonic of NF-1, and isolated occurrence is relatively rare. We reported three cases of solitary plexiform neurofibromas with an unusual presentation. We have two cases of spontaneous bleeding isolated plexiform neurofibroma that have never been reported in the literature. Neither one of them showed signs and symptoms associated with the neurofibromatosis spectrum. This unusual presentation poses substantial challenges in diagnosis and management.
1型神经纤维瘤病（NF-1）是一种常染色体显性遗传的神经皮肤疾病，也被称为冯雷克林霍增氏病。丛状神经纤维瘤是NF-1的一种罕见类型，其中神经纤维瘤起源于神经鞘细胞或皮下周围神经。它是NF-1的特征性表现，孤立发生相对罕见。我们报告了3例具有不寻常表现的孤立性丛状神经纤维瘤病例。我们有2例孤立性丛状神经纤维瘤自发出血的病例，这在文献中从未有过报道。它们均未表现出与神经纤维瘤病谱系相关的体征和症状。这种不寻常的表现给诊断和治疗带来了巨大挑战。
