How to diagnose fibroids

Neurofibromatosis is an autosomal dominant genetic disease caused by disorders in ectoderm and mesoderm tissues. Neurofibromatosis is a neuroectodermal abnormality caused by dominant inheritance. Let's take a look at how to diagnose neurofibromatosis. Let's take a closer look at the diagnosis of neurofibromatosis.

Neurofibromatosis is an autosomal dominant genetic disease. It is caused by a gene defect that causes abnormal development of neural crest cells, leading to multi-system damage. According to clinical manifestations and gene location, it is divided into neurofibromatosis type I (NFI) and type II (NFⅡ). The main features are café-au-lait spots on the skin and multiple neurofibromas on the peripheral nerves. It has a high penetrance and the gene is located on chromosome 17q11.2. The prevalence rate is 3/100,000; NFⅡ is also called central neurofibroma or bilateral acoustic neuromatosis, and the gene is located on chromosome 22q.

Diagnosis of neurofibromas

(I) Auxiliary examinations: X-rays can reveal various bone deformities; spinal canal angiography, CT and MRI can reveal central nervous system tumors. Brainstem auditory evoked potentials have a greater diagnostic value for acoustic neuromas. Genetic analysis can determine the types of NFI and NFⅡ.

(II) Diagnosis and differential diagnosis:

1. Diagnosis:

①NFI diagnostic criteria (NIH, 1987): 6 or more café-au-lait spots, with the largest diameter >5mm before puberty and >15mm after puberty; freckles in the axilla and inguinal area; 1 or more neurofibromas or plexiform neurofibromas; first-degree relatives with NFI; 2 or more Lisch nodules; bone lesions;

② NFⅡ diagnostic criteria: bilateral acoustic neuromas confirmed by imaging, first-degree relatives suffering from NFⅡ with unilateral acoustic neuroma, or with two of the following: neurofibroma, meningioma, glioma, and Schwann cell tumor, and posterior subcapsular lens opacity in adolescents.

2. Differential diagnosis:

It should be differentiated from local soft tissue racemose hemangiomas of tuberous sclerosis, syringomyelia, and fibrous dysplasia syndrome.

What are the diagnostic methods for neurofibroma? After reading the above introduction, you have a better understanding of the diagnosis of neurofibroma! I hope it will be helpful to you. Neurofibroma should be discovered and treated as early as possible. If you feel unwell, please go to a regular hospital for treatment immediately!