Severe Untreated Scoliosis and Early Onset Breast Cancer in a Patient with Neurofibromatosis Associated with a Nonsense Variant of NF1 Gene.

ABSTRACT:

Background

Neurofibromatosis 1 (NF1) is a relatively common genetic disorder linked to skeletal abnormalities and elevated risk of cancer. Early onset scoliosis is common in patients with NF1 although severe scoliosis is rare. Scoliosis complicates the normal development and growth and may lead to thoracic insufficiency syndrome. The increased risk for breast cancer in young NF1 female patients has been recently identified.

Case presentation

We describe a NF1 patient with dystrophic scoliosis symptoms emerged at childhood. At 37 years of age major scoliosis curve in the thoracolumbar region was 80 degrees. The patient was diagnosed with breast cancer at the age of 37 years, histologically the breast cancer was ductal, hormone receptor positive and Her2-positive.

Results</

SUBMITTER: Reinhold V 

PROVIDER: S-EPMC10543094 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature