Del Puerto Constanza, Aspee Mauricio, Downey Camila
Departamento de Dermatología, Pontificia Universidad Católica de Chile, Santiago, Chile.
Departamento de Anatomía Patológica, Centro de Referencia en Salud Cordillera Oriente, Santiago, Chile.
Andes Pediatr. 2022 Oct;93(5):741-748. doi: 10.32641/andespediatr.v93i5.4157.
Neurofibromatosis type 1 (NF1) is the most frequent genodermatosis. Its cutaneous findings are key for early diagnosis, as they usually appear at early age. Café-au-lait macules are the most known cutaneous findings. Neurofibromas are the most frequent cutaneous tumors in patients with NF1, showing multiple clinical manifestations. They are classified as superficial and deep lesions, and su perficial neurofibromas are subdivided in cutaneous or subcutaneous. Some neurofibromas may be present since birth; however, most appear during adolescence. Neurofibromas constitute 2 out of 7 of the NIH criteria of Neurofibromatosis type 1. Most of them are benign, do not require treatment and their recognition allows an early diagnosis of the disease.
To describe and classify neu rofibromas associated with NF1 through a clinical case.
18-year-old male diagnosed since childhood with NF1 presents with multiple oval nodules on his face, occipital area, and wrist, multiple blue-red macules on his back and an asymptomatic pink plaque in his thigh. Ultrasound of the nodules was suggestive of neurofibromas and a skin biopsy of the lesions in the back and thigh were consistent with cutaneous neurofibromas.
This case illustrates the varied clinical manifestations of neurofibromas in adolescence. Recognition of neurofibromas by the pediatrician, pediatric neurologist and/or dermatologist is crucial for the early diagnosis of NF1.
1型神经纤维瘤病（NF1）是最常见的遗传性皮肤病。其皮肤表现对于早期诊断至关重要，因为它们通常在幼年时出现。咖啡斑是最广为人知的皮肤表现。神经纤维瘤是NF1患者中最常见的皮肤肿瘤，具有多种临床表现。它们分为浅表和深部病变，浅表神经纤维瘤又可细分为皮肤型或皮下型。有些神经纤维瘤可能自出生就存在；然而，大多数在青春期出现。神经纤维瘤构成了1型神经纤维瘤病美国国立卫生研究院（NIH）标准中的7项标准中的2项。它们大多数是良性的，不需要治疗，对其识别有助于疾病的早期诊断。
通过一个临床病例描述并分类与NF1相关的神经纤维瘤。
一名自童年起就被诊断为NF1的18岁男性，面部、枕部和腕部有多个椭圆形结节，背部有多个蓝红色斑疹，大腿有一个无症状的粉红色斑块。结节的超声检查提示为神经纤维瘤，背部和大腿病变的皮肤活检结果与皮肤神经纤维瘤一致。
本病例说明了青春期神经纤维瘤的多种临床表现。儿科医生、儿科神经科医生和/或皮肤科医生对神经纤维瘤的识别对于NF1的早期诊断至关重要。
