Oculocerebrocutaneous syndrome is a condition characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial skin tags. 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.
See also Ocular rosacea List of cutaneous conditions
References
External links