Three additional cases, and a review of clinical features of a total of 26 cases of oculocerebrocutaneous (OCC) syndrome, are reported from Maastricht University, and University of Groningen, The Netherlands. Common features of OCC syndrome are 1) Ocular: orbital cysts, eyelid coloboma, microphthalmia/anophthalmia; 2) Cutaneous: skin appendages, dermal hypoplasia and punch-like defects; and 3) Cerebral: psychomotor retardation, seizures, dilated ventricles, cysts, callosal agenesis, and cerebellar hypoplasia. The probable pathogenic mechanism is a disruption of the anterior neuroectodermal plate resulting in neurocristopathy with craniofacial dysmorphism. Possible etiological hypotheses include a lethal mutation with survival by mosaicism, an autosomal dominant inheritance with high mutation rate, and exposure to a potential teratogen, as yet unrecognized. [1]

COMMENT. The oculocerebrocutaneous syndrome, with its triad of clinical features, is frequently manifested by mental retardation and seizures. No familial cases have been reported. Encephalocraniocutaneous lipomatosis (ECCL) is also characterized by a triad of cutaneous, ocular and cerebral anomalies associated with retardation and seizures, and may be considered in the differential diagnosis. One patient described with OCC syndrome also showed lipomatosis of the spinal dura and a lipoma in the region of the zygoma. A mutation factor responsible for cell growth and cell migration has been proposed in the pathogenesis of ECCL, similar to that for hamartoses.