Abstract：
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.
OBJECTIVE: To describe and classify neu rofibromas associated with NF1 through a clinical case.
METHODS: 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.
CONCLUSIONS: 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.
OBJECTIVE: To describe and classify neu rofibromas associated with NF1 through a clinical case.
METHODS: 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.
CONCLUSIONS: 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.
摘要：
1型神经纤维瘤病（NF1）是最常见的遗传性皮肤病。它的皮肤发现是早期诊断的关键，因为他们通常出现在早期的年龄。Café-au-lait黄斑是最已知的皮肤发现。神经纤维瘤是NF1患者中最常见的皮肤肿瘤，表现出多种临床表现。它们被分类为浅层和深层病变，浅表神经纤维瘤分为皮肤或皮下。一些神经纤维瘤可能在出生后出现；然而，大部分出现在青春期。神经纤维瘤构成1型神经纤维瘤病NIH标准的7个中的2个。大多数是良性的，不需要治疗，他们的识别允许疾病的早期诊断。
目的：通过一个临床病例来描述和分类与NF1相关的神经纤维瘤。
方法：18岁男性自幼被诊断为NF1，脸上有多个椭圆形结节，枕骨区,和手腕，他背上有多处蓝红色斑斑，大腿上有无症状的粉红色斑块。结节超声提示神经纤维瘤，背部和大腿病变的皮肤活检与皮肤神经纤维瘤一致。
结论：本病例说明了青春期神经纤维瘤的各种临床表现。儿科医生对神经纤维瘤的认识，儿科神经科医师和/或皮肤科医师对NF1的早期诊断至关重要.
目的：通过一个临床病例来描述和分类与NF1相关的神经纤维瘤。
方法：18岁男性自幼被诊断为NF1，脸上有多个椭圆形结节，枕骨区,和手腕，他背上有多处蓝红色斑斑，大腿上有无症状的粉红色斑块。结节超声提示神经纤维瘤，背部和大腿病变的皮肤活检与皮肤神经纤维瘤一致。
结论：本病例说明了青春期神经纤维瘤的各种临床表现。儿科医生对神经纤维瘤的认识，儿科神经科医师和/或皮肤科医师对NF1的早期诊断至关重要.
