A case of encephalocraniocutaneous lipomatosis
- Department of Ophthalmology, St Thomas’s Hospital, Lambeth Palace Road, London SE1 7EH, UK
- Correspondence to: Major H B Chittenden
- Accepted 11 February 2002
Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterised by cranial and facial asymmetry, cutaneous lesions, central nervous system abnormalities, and ocular abnormalities.
A case is described of a young man who presented with limbal dermoids, subcutaneous lipomas, and scalp alopecia. Further investigation revealed cranial and facial asymmetry, intracranial lipomas, and calcification and an arachnoid cyst, supporting a diagnosis of ECCL. This patient also had the additional ocular abnormality of bilateral optic disc colobomas, an association with ECCL not previously reported in the literature.
Case report
A 23 year old Asian man first presented to the eye clinic aged 16 with a left conjunctival lesion. On examination he had bilateral conjunctival dermolipomas, preauricular lipomas, and bilateral optic disc colobomas. Surgery was not advised at this time and no follow up was arranged, although photographs were taken (Fig 1). Aged 20, he presented to the eye clinic again. Before excision biopsy of the left conjunctival dermolipoma, a computed tomograph (CT) scan of the head was requested to delineate the posterior extent of the …
