Oculo-cerebro-cutaneous syndrome
Oculo-cerebro-cutaneous Syndrome Oculo-cerebro-cutaneous syndrome (OCCS) is a rare congenital disorder characterized by anomalies affecting the eyes, brain, and skin. This condition is also known as Delleman syndrome, named after the Dutch ophthalmologist who first described it in 1981.
Clinical Features[edit | edit source]
OCCS is marked by a triad of symptoms:
Ocular Anomalies[edit | edit source]
Patients with OCCS often present with anophthalmia or microphthalmia, which are conditions where one or both eyes are absent or abnormally small. Other ocular features may include colobomas, which are defects in the structure of the eye, and cataracts.
Cerebral Anomalies[edit | edit source]
Neurological manifestations can include cerebral malformations such as porencephaly, where cysts or cavities form within the cerebral hemisphere. Other possible brain anomalies include hydrocephalus and agenesis of the corpus callosum.
Cutaneous Anomalies[edit | edit source]
Skin manifestations in OCCS include the presence of skin tags, lipomas, and areas of hypopigmentation or hyperpigmentation. These skin lesions are often found on the face and scalp.
Genetics[edit | edit source]
The genetic basis of OCCS is not fully understood, but it is believed to occur sporadically. There is no clear pattern of inheritance, and most cases appear to arise from new mutations.
Diagnosis[edit | edit source]
Diagnosis of OCCS is primarily clinical, based on the presence of the characteristic triad of symptoms. Imaging studies such as MRI or CT scans can be used to identify cerebral anomalies, while ophthalmologic examination can confirm ocular defects.
Management[edit | edit source]
There is no cure for OCCS, and treatment is symptomatic and supportive. Management may involve:
- Surgical intervention for ocular anomalies, such as cataract removal or correction of colobomas.
- Neurological management, including treatment for seizures or hydrocephalus.
- Dermatological care for skin lesions.
Prognosis[edit | edit source]
The prognosis for individuals with OCCS varies depending on the severity of the symptoms and the presence of associated complications. Early intervention and supportive care can improve quality of life.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Oculo-cerebro-cutaneous syndrome is a rare disease.
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