Encephalocraniocutaneous lipomatosis

Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome, is a rare sporadic congenital neurocutaneous syndrome and mosaic RASopathy characterized by unilateral lipomas and other benign tumors of the head and neck, and ipsilateral intracranial anomalies.

The clinical features of ECCL overlap with other neurocutaneous syndromes.

Clinical presentation

The potential clinical features are diverse ³. Typically, intracranial anomalies occur ipsilaterally to unilateral dermatological anomalies, but this is not always the case ³. The most characteristic findings include ³:

• nevus psiloliparus

  • most characteristic lesion (but not pathognomonic)

  • describes focal area of non-scarring scalp alopecia overlying a subcutaneous lipomatous hamartoma

• intracranial lipomas

  • typically located at the cerebellopontine angle

  • can present with or contribute to seizures/epilepsy, focal neurological deficits, and/or intellectual disability

• intradural spinal lipomas

  • can present with myelopathy

• benign periorbital tumors (e.g. choristoma)

  • rarely present with visual loss

• benign jaw tumors (e.g. osteomas)

  • can displace teeth and other facial structures

• coarctation of the aorta

Complications

Oncological associations include ³:

• low-grade gliomas (e.g. pilocytic astrocytomas)

• Wilms tumor

Pathology

Encephalocraniocutaneous lipomatosis may be considered a mosaic RASopathy, often due to mosaic somatic mutations to the FGFR1, KRAS or NRAS genes ^3,4.

Radiographic features

MRI

Potential pathologies on MRI of the neuraxis include ^1,3:

• unilateral cerebral hemispheric atrophy ipsilateral to scalp lipoma

• diffuse, ipsilateral leptomeningeal enhancement 

• intracranial lipomas

• intradural spinal lipomas/lipomatosis (cervicothoracic > lumbar)

• polymicrogyria of temporal, parietal and/or occipital lobes

• enlargement of the lateral ventricle

• cystic anomalies (e.g. porencephalic cysts, arachnoid cysts)

• intracranial vascular malformations (e.g. leptomeningeal angiomatosis)

History and etymology

The syndrome was first described by Catherine Haberland and Maurice Perou in 1970 ².