Mutation analysis in a case of neurofibromatosis type 1 complicated by occipital arteriovenous malformation and scoliosis / 中华皮肤科杂志

ABSTRACT

A 15-year-old female patient presented with multiple café-au-lait spots all over the body for 15 years and scoliosis for more than 1 year. One year prior to the presentation, the patient underwent tumor resection due to occipital arteriovenous malformation. Skin examination showed multiple scattered café-au-lait spots of various sizes all over the body with the largest café-au-lait spot measuring about 3 cm × 4 cm, and freckles on the axillae and groins. Whole exome sequencing revealed a frameshift mutation due to a heterozygous one-base deletion (c.3328delT) in exon 26 of the NF1 gene in the patient, which was not identified in the patient′s parents and younger brother. The patient was diagnosed with neurofibromatosis type 1 complicated by occipital arteriovenous malformation and scoliosis.