Washington Ezella N, Placket Timothy P, Gagliano Ronald A, Kavolius Jeffery, Person Donald A
Tripler Army Medical Center, Honolulu, HI 96859, USA.
Hawaii Med J. 2010 Aug;69(8):191-3.
Neurofibromatosis type 1 is an autosomal dominant disorder affecting the ras proto-oncogene. It is characterized by the overgrowth of nervous tissue and skin discoloration. While it is associated with a variety of phenotypic presentations, it is the plexiform variant that is particular concerning, as it can become extremely disfiguring and has a propensity for malignant degeneration. A case of a Pacific Islander with a large plexiform type 1 neurofibroma is presented. The patient was ultimately treated with surgical resection, negative pressure wound therapy, and split-thickness skin grafting with good results. A review of the literature concerning the diagnosis and treatment of neurofibromatosis is included.
1型神经纤维瘤病是一种影响原癌基因ras的常染色体显性疾病。其特征是神经组织过度生长和皮肤色素沉着。虽然它与多种表型表现相关，但丛状型尤其令人担忧，因为它可能会变得极其毁容，并有恶性变的倾向。本文介绍了一例患有大型丛状1型神经纤维瘤的太平洋岛民病例。该患者最终接受了手术切除、负压伤口治疗和中厚皮片移植，效果良好。文中还包括了关于神经纤维瘤病诊断和治疗的文献综述。
