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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.
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 lesion. This revealed some asymmetry of the skull vault, intracranial calcification within the right cerebellar hemisphere, and a possible cystic lesion in the left parietal area (Fig 2 (left)). Subsequent examination by a neurologist was entirely normal with no stigmata of the phacomatoses. Histology of the conjunctival lesion confirmed a complex corneoscleral choristoma comprising collagenous tissue with fat and a focus of cartilage.
Three years later the patient was seen by a dermatologist complaining of a lesion on his left eyebrow, which was clinically a lipoma. Skull and facial x rays revealed asymmetry of the skull vault and facial bones including the zygomatic arches. Further investigation in the form of an magnetic resonance imaging (MRI) scan of the brain showed lipomas within the subcutaneous fat of the scalp and also intracranial lipomas. In addition, there was an arachnoid cyst anterior and inferior to the left temporal lobe (Fig 2 (right)). There was no connection between the soft tissue tumour on the left eyebrow and the intracranial cavity. Subsequent histology of the excised lesion revealed a lipoma.
Review of the patient’s childhood medical records revealed that since birth he had had large patches of scalp alopecia and aged 7 he was noted to have a large suprapubic fat pad. A final diagnosis of ECCL was made based on the findings of limbal dermoids, subcutaneous lipomas, scalp alopecia, cranial and facial asymmetry, intracranial lipomas and calcification, and an arachnoid cyst.
ECCL is a rare neurocutaneous syndrome of unknown aetiology, first described by Haberland and Perou in 1970.1 All cases described in the literature have been sporadic and there does not appear to be any geographic, racial, or sex predilection. The syndrome is characterised by cranial and facial asymmetry, cutaneous lesions, central nervous system abnormalities, ocular abnormalities, and occasionally visceral lipomas. The abnormalities tend to be unilateral, although bilateral involvement has been described.2–4
Cutaneous lesions consist mainly of subcutaneous scalp lipomas with overlying alopecia but lipomas involving the limbs and paravertebral areas have also been reported.1,2 Papular skin lesions are also common and histologically have been found to be lipomas, fibrolipomas, and angiofibromas.3 Central nervous system abnormalities are numerous and include cerebral lipomas, cerebral calcifications, ventricular dilatation, cerebral atrophy, arachnoid cysts, seizures, spasticity, and mental retardation.5 The most common ocular lesions in ECCL are epibulbar choristomas and small skin nodules around the eyelids, which histologically represent connective tissue naevi.6 Other reported ocular abnormalities include a subcutaneous choristoma of the eyelid,1 a small tag of tissue in the anterior chamber,7 a persistent posterior hyaloid system,7 a dysplastic iris,8 papilloedema,2 and epicanthus inversus plus hypertelorism.4
The patient in this case report demonstrates the main features of ECCL; cranial and facial asymmetry, subcutaneous lipomas and scalp alopecia, intracranial calcification and lipomas, an arachnoid cyst, and limbal dermoids. There was also the additional finding of optic disc colobomas, an association with ECCL not previously reported in the literature. Other common findings in ECCL are seizures and mental retardation,5 but neither were apparent in this case and may explain the comparatively late presentation of this patient; most patients present in early childhood.1,3,4,8 The abnormalities in ECCL are usually unilateral but bilateral involvement does occur2–4 and was evident in this patient. Although epibulbar choristomas and limbal dermoids can occur sporadically in isolation or in a Mendelian inherited pattern9,10 there may be systemic associations such Goldenhar’s syndrome, the linear naevus sebaceous syndrome, or ECCL and the ophthalmologist should consider these diagnoses when a patient presents with an epibulbar choristoma or limbal dermoid.