Neurological involvement in the epidermal naevus syndrome

Area of Science:

• Neurology
• Vascular Medicine
• Genetics

Background:

• Epidermal nevus syndrome is a rare congenital disorder.
• Neurological complications are known but not fully characterized.
• Carotid artery occlusion is an uncommon presentation.

Purpose of the Study:

• To describe a unique case of epidermal nevus syndrome.
• To highlight unusual neurological and vascular manifestations.
• To discuss potential underlying mechanisms.

Main Methods:

• Case report of an 18-year-old female.
• Clinical presentation analysis.
• Review of relevant literature.

Main Results:

• The patient presented with dysphasia, hemiparesis, and sensory deficits.
• Right internal carotid artery occlusion was identified.
• Associated findings included abnormal retinal vessels and Raynaud's phenomenon.
• These vascular findings are novel for this syndrome.

Conclusions:

• Epidermal nevus syndrome can present with severe vascular complications.
• Dysplastic arteries may be the cause of arterial occlusion.
• Further research is needed to understand the vascular aspects of this syndrome.