Cutaneous and ocular manifestations in Indian children with neurocutaneous syndromes: A cross-sectional study

Area of Science:

• Pediatric Neurology
• Dermatology
• Ophthalmology

Background:

• Neurocutaneous syndromes encompass a group of genetic disorders characterized by abnormalities in the skin and nervous system.
• Cutaneous and ocular manifestations are common but often present with significant variability.

Purpose of the Study:

• To describe the diverse phenotypical spectrum of cutaneous and ocular findings in children diagnosed with neurocutaneous syndromes.
• To emphasize the importance of recognizing both typical and atypical presentations for early diagnosis.

Main Methods:

• A cross-sectional study was conducted over an 18-month period.
• The study included pediatric patients aged 1 to 15 years with confirmed neurocutaneous syndromes.

Main Results:

• A wide range of phenotypical presentations for cutaneous and ocular manifestations was observed.
• The study highlighted the inconstant nature of these symptoms across different individuals.

Conclusions:

• The variable presentation of neurocutaneous syndromes necessitates a comprehensive clinical evaluation.
• Awareness of the full spectrum of signs, including rare ones, is crucial for prompt identification and effective management.