Delleman-Oorthuys syndrome: 'Oculocerebrocutaneous syndrome': Is this a variant?

Avinash Mishra¹, Gaurav Luthra², VK Baranwal³, Somesh Aggarwal^4
1 Department of Ophthalmology, Military Hospital Ahmedabad, Ahmedabad Cantonment, Ahmedabad, Gujarat, India
² Drishti Eye Centre, Dehradun, Uttarakhand, India
³ Department of Ophthalmology, Command Hospital Northern Command, Udhampur, Jammu and Kashmir, India
⁴ Vitero-retinal Surgeon, M and J Western Regional Institute of Ophthalmology, Ahmedabad, Gujarat, India

Correspondence Address:
Avinash Mishra,
Department of Ophthalmology, Military Hospital Ahmedabad, Ahmedabad Cantonment, Gujarat
India

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.158304

Delleman-Oorthuys syndrome or oculocerebrocutaneous syndrome (OCCS) is a rare genetic disorder characterized by eye abnormalities, skin abnormalities, areas of alopecia in combination with hydrocephalus. Until date, only 28 patients with equivocal diagnosis of OCCS have been reported. All of which are sporadic, with no risk of recurrence in the siblings. No etiological cause has been found as yet. It may also show overlapping clinical features with other syndromes like Goldenhar syndrome, encephalo-cranio-cutaneous lipomatosis and Goltz syndrome. We present a case of a 9-month-old male child who presented with unilateral temporo parietal aloepecia, multiple cystic lesions on the upper eyelid and adjacent periorbital areas, as well as an upper eyelid coloboma and epibulbar dermoid, all of which were present since birth.

Keywords: Cystic lesions on the upper eyelid, epibulbar dermoid, eyelid coloboma, unilateral aloepecia