Oculocerebrocutaneous syndrome is a condition characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial skin tags.^[1]

Presentation

The symptoms include:

• Skin lesions
  • Hypoplastic or aplastic skin defects
  • Pedunculated, hamartomatous or nodular skin appendages
• Eye lesions
  • Cystic microphthalmia
• Brain lesions
  • Forebrain anomalies
    • Agenesis of the corpus callosum
    • Enlarged lateral ventricles
    • Interhemispheric cysts
    • Hydrocephalus
    • Polymicrogyria
    • Periventricular nodular heterotopia
  • Mid-hindbrain malformation
    • Giant dysplastic tectum
    • Absent cerebellar vermis
    • Small cerebellar hemispheres
    • Large posterior fossa fluid collections

Genetics

While the disorder is not fully understood, it is suspected that the gene(s) responsible may lie on the X chromosome.

Diagnosis

Differential diagnosis

• Aicardi syndrome
• Encephalocraniocutaneous lipomatosis
• Focal dermal hypoplasia
• Oculo-auriculo-vertebral spectrum

Epidemiology

This rare condition appears in males more frequently and had only 26 cases diagnosed in total by 2005.