Oculocerebrocutaneous syndrome

Oculocerebrocutaneous syndrome
Oculocerebrocutaneous syndrome
Other names	Delleman–Oorthuys syndrome
Specialty	Medical genetics

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

Epidemiology

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

References

^ ^a ^b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.

External links

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[Bolognia-1] Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.

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