Oculocerebrocutaneous syndrome: a case report, a follow-up, and differential diagnostic considerations

Oculocerebrocutaneous syndrome consists essentially of orbital cysts and microphthalmia/anophthalmia, focal dermal defects, skin appendages and malformations of the central nervous system. Up to now, about 20 sporadic cases have been reported. Limited information is available on the clinical spectrum and on the natural history. We present the long-term follow-up of a 19 year-old patient who was one of the first two patients described by Delleman and Oorthuys in 1981. Furthermore, we report on a new case presenting with bilateral anophthalmia and orbital cysts, typical skin lesions, a complex brain malformation and cleft lip palate. This infant died due to the severe cerebral malformations at the age of 10 months. Encephalocraniocutaneous lipomatosis, focal dermal hypoplasia and microphthalmia with linear skin defects (MLS) syndrome are discussed as the most important differential diagnostic entities.