Review of encephalocraniocutaneous lipomatosis

Abstract

Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome, is a sporadic tumor predisposition neurocutaneous disorder, included in the oculoectodermal syndrome group of mosaic RASopathies. ECCL primarily affects the skin, central nervous system and eyes. Key diagnostic features include nevus psiloliparus, a hallmark subcutaneous lipomatous hamartoma associated with alopecia, along with subcutaneous lipomas, focal skin aplasia, and patchy alopecia. Neurologically, intracranial lipomas, particularly in the cerebellopontine angle, are prevalent, along with cortical dysplasia, ventriculomegaly, and vascular malformations. Ocular findings commonly involve choristomas, lipodermoids, and dermoids, which may impair vision. Diagnosis can be made clinically, but further confirmatory genetic testing can in some cases identify a pathogenic variant in the FGFR1 or KRAS genes. Molecular testing aids diagnosis but is not always conclusive. Management is multidisciplinary with focus on symptomatic management, typically involving dermatological, neurological, and ophthalmologic evaluations with consideration of brain and spine neuroimaging and surgical management of tumors. The prognosis varies, with most individuals leading generally normal lives, though there is a risk of developmental delay, seizures, and low-grade gliomas. The severity of CNS involvement does not consistently correlate with cutaneous or ocular abnormalities.