Widespread nevus spilus associated with torsion dystonia: a case report

Area of Science:

• Dermatology
• Neurology
• Medical Genetics

Background:

• Nevus spilus, or speckled lentiginous nevus, is a congenital melanocytic nevus characterized by a tan macule with superimposed darker macules or papules.
• While often solitary and benign, it can rarely present as large segmental lesions or be associated with complex syndromes like phacomatosis pigmentovascularis.

Observation:

• A 6-year-old Caucasian patient presented with a systematized nevus spilus, indicating a widespread distribution of the lesion.
• The patient also exhibited symptoms of torsion dystonia, a movement disorder characterized by involuntary muscle contractions.

Findings:

• This case represents the first documented instance of systematized nevus spilus co-occurring with torsion dystonia.
• The combination of these two conditions in a pediatric patient is highly unusual and suggests a potential, previously unrecognized association.

Implications:

• This report expands the known spectrum of anomalies associated with nevus spilus.
• Further research is warranted to investigate the potential underlying genetic or developmental mechanisms linking systematized nevus spilus and movement disorders like torsion dystonia.