|Other names: Delleman–Oorthuys syndrome|
|Individual with Oculocerebrocutaneous syndrome- One-month with congential cystic mass replacing the eyeball on left side with accessory periocular cystic appendages.|
Symptoms and signs
- Skin lesions
- Hypoplastic or aplastic skin defects
- Pedunculated, hamartomatous or nodular skin appendages
- Eye lesions
- Cystic microphthalmia
- Brain lesions
- Forebrain anomalies
- Mid-hindbrain malformation
This is not understood but it is suspected that the gene(s) responsible may lie on the X chromosome.
- Aicardi syndrome
- Encephalocraniocutaneous lipomatosis
- Focal dermal hypoplasia
- Oculo-auriculo-vertebral spectrum
Oculocerebrocutaneous syndrome treatment/management involve orbital cyst removal via aspiration/dissection from periocular region. Sclerosing therapy can be used for this condition
This is a rare condition with only 26 cases diagnosed by 2005.
There is a marked male preponderance.
- Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Oculocerebrocutaneous syndrome". www.orpha.net. Archived from the original on 5 September 2021. Retrieved 4 September 2021.