Case Report

Tip of an Iceberg: Skull Fracture as an Adult Presentation of Encephalocraniocutaneous Lipomatosis

Table 1

Diagnostic criteria (adapted from Moog et al.).

EyeSkinCNSOther

MajorChoristomaNevus psiloliparis (NP)Intracranial or intraspinal lipomaJaw tumours:
(i) Osteoma
(ii) Odontoma
(iii) Nonossifying fibroma
Multiple bone cysts
Aortic coarctation

MinorCorneal anomaliesPossible NPAbnormal intracranial vessels
Ant. chamber anomaliesPatchy/streaky nonscarring alopecia (without NP)Arachnoid cyst
Abnormalities of meninges
Ocular colobomaFrontotemporal subcutaneous lipomasHemispheric atrophy (complete or partial)
Eyelid colobomaFocal aplasia/hypoplasia scalpPorencephalic cyst(s)
Calcification of globeSmall nodular skin tags on outer eyelid (between outer canthus and tragus)Asymmetrically dilated ventricles
Hydrocephalus
Calcification (not basal ganglia)