Ocular findings in linear sebaceous naevus syndrome

Area of Science:

• Dermatology
• Pediatrics
• Ophthalmology
• Genetics

Background:

• Linear Sebaceous Nevus Syndrome (LSNS) is a rare congenital disorder characterized by a nevus linearly distributed along the Blaschko lines.
• LSNS is often associated with extracutaneous manifestations, including neurological, skeletal, and ocular abnormalities.

Observation:

• A 5-month-old infant presented with a linear sebaceous nevus and multiple congenital anomalies.
• Ocular findings included colobomatous changes, conjunctival dermoid, chorioretinal changes, and optic nerve abnormalities.
• Systemic findings encompassed cleft palate, hearing loss, skull asymmetry, ventricular septal defect, epidermal cyst, and developmental delay.

Findings:

• The presented case illustrates the complex and multisystemic nature of Linear Sebaceous Nevus Syndrome.
• The ocular and systemic malformations observed underscore the importance of comprehensive evaluation in affected infants.
• This case highlights the challenges in diagnosing and managing rare genetic syndromes with diverse clinical presentations.

Implications:

• Comprehensive diagnostic workup is essential for patients with LSNS to identify all associated anomalies.
• Multidisciplinary management involving dermatology, ophthalmology, audiology, cardiology, and developmental pediatrics is crucial.
• Further research into the genetic basis and long-term outcomes of LSNS is warranted to improve patient care.