Oculoectodermal syndrome: twentieth described case with new manifestations

Area of Science:

• Genetics and Rare Diseases
• Dermatology and Ophthalmology
• Pediatric Neurology

Background:

• Oculoectodermal syndrome is a rare genetic disorder characterized by aplasia cutis congenita and epibulbar dermoids.
• This report presents the twentieth documented case, contributing to the understanding of this rare condition.

Observation:

• A 4-year-old female presented with classical features: aplasia cutis congenita and epibulbar dermoids.
• The patient exhibited additional abnormalities, including Blaschko-linear hyperpigmentation, hypopigmented skin areas, arachnoid cyst, hippocampal abnormality, and a dermoid cyst.
• New associations include infantile and verrucous hemangiomas, with the latter being a novel finding in this syndrome.

Findings:

• The case confirms the classical presentation of Oculoectodermal syndrome.
• It significantly expands the known clinical spectrum, detailing previously unreported features like specific neurological and vascular anomalies.
• The presence of verrucous hemangioma is a novel finding, broadening the syndrome's phenotypic description.

Implications:

• This case enriches the understanding of Oculoectodermal syndrome's variability and diagnostic criteria.
• It highlights the importance of comprehensive evaluation in patients with suspected rare genetic disorders.
• Further research into the genetic underpinnings and management strategies for Oculoectodermal syndrome is warranted.