Unilateral skin lesions associated with multiple neoplasms

Area of Science:

• Dermatology
• Genetics
• Neurology

Background:

• Epidermal nevus syndrome (ENS) is a rare congenital disorder characterized by epidermal nevi and extracutaneous manifestations.
• Neurocristopathies encompass a diverse group of disorders arising from neural crest cell development anomalies.

Observation:

• A pediatric patient exhibited unilateral, complex skin lesions including depigmentation, hyperpigmentation, atrophy, and hypertrichosis.
• Associated findings included postauricular nodules, cataracts, and mild intellectual disability.

Findings:

• The patient developed significant neoplasms: optic glaucoma, a psammomatous meningioma, and an ameloblastoma.
• The constellation of findings suggests a potential overlap or variant of ENS or a novel neuro-ectodermal dysplasia.

Implications:

• This case highlights the phenotypic variability and complexity of neuro-ectodermal disorders.
• Further investigation is crucial for accurate diagnosis, management, and understanding the underlying genetic mechanisms.