Epidermal naevus syndrome

Area of Science:

• Dermatology
• Clinical Genetics
• Pediatric Medicine

Background:

• Epidermal nevus syndrome (ENS) is a rare congenital disorder characterized by the presence of epidermal nevi and anomalies in various organ systems.
• The syndrome encompasses a spectrum of clinical presentations, making diagnosis challenging.
• Early recognition is crucial for comprehensive management and monitoring of potential complications.

Observation:

• A patient presented with massive bilateral lower limb enlargement as the primary symptom.
• The patient also exhibited an extensive nevus unius lateris, a large, unilateral epidermal nevus, affecting the trunk.
• The combination of these findings strongly suggested a diagnosis of epidermal nevus syndrome.

Findings:

• The case illustrates a severe manifestation of epidermal nevus syndrome.
• The extensive nevus unius lateris and significant limb hypertrophy represent key dermatological and physical findings.
• Diagnostic confirmation typically involves clinical evaluation and potentially genetic testing.

Implications:

• This case underscores the importance of considering epidermal nevus syndrome in patients with congenital nevi and significant limb asymmetry or overgrowth.
• Prompt diagnosis facilitates timely intervention for associated medical conditions, improving patient outcomes.
• Further research into the genetic underpinnings and phenotypic variability of ENS is warranted.