Case Report
Tip of an Iceberg: Skull Fracture as an Adult Presentation of Encephalocraniocutaneous Lipomatosis
Table 1
Diagnostic criteria (adapted from Moog et al.).
| | Eye | Skin | CNS | Other |
| Major | Choristoma | Nevus psiloliparis (NP) | Intracranial or intraspinal lipoma | Jaw tumours: | (i) Osteoma | (ii) Odontoma | (iii) Nonossifying fibroma | Multiple bone cysts | Aortic coarctation |
| Minor | Corneal anomalies | Possible NP | Abnormal intracranial vessels | | Ant. chamber anomalies | Patchy/streaky nonscarring alopecia (without NP) | Arachnoid cyst | | Abnormalities of meninges | Ocular coloboma | Frontotemporal subcutaneous lipomas | Hemispheric atrophy (complete or partial) | | Eyelid coloboma | Focal aplasia/hypoplasia scalp | Porencephalic cyst(s) | | Calcification of globe | Small nodular skin tags on outer eyelid (between outer canthus and tragus) | Asymmetrically dilated ventricles | | Hydrocephalus | Calcification (not basal ganglia) | |
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