Oculocerebrocutaneous syndrome

Oculocerebrocutaneous syndrome
Other names: Delleman–Oorthuys syndrome
Individual with Oculocerebrocutaneous syndrome- One-month with congential cystic mass replacing the eyeball on left side with accessory periocular cystic appendages.

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

Symptoms and signs

These 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

This is not understood but 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

Management

Oculocerebrocutaneous syndrome treatment/management involve orbital cyst removal via aspiration/dissection from periocular region. Sclerosing therapy can be used for this condition

Epidemiology

This is a rare condition with only 26 cases diagnosed by 2005.

There is a marked male preponderance.

See also

• Ocular rosacea
• List of cutaneous conditions

External links

Classification	OMIM: 164180 DiseasesDB: 32020