Encephalocraniocutaneous lipomatosis

Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome or Fishman syndrome, is a rare congenital neurocutaneous disorder characterized by the triad of skin, eye, and central nervous system abnormalities. It is thought to arise from somatic mosaic mutations, most commonly in the FGFR1 gene, which explains its sporadic occurrence and the asymmetric distribution of lesions. The condition primarily affects the skin, eyes, and brain. Cutaneous features include nevus psiloliparus (a hairless fatty nevus on the scalp), subcutaneous lipomas of the scalp and face, and other skin lesions such as focal skin aplasia or skin tags, typically on the head and neck. Ocular abnormalities may include choristomas (benign growths on the eye surface), colobomas, and other structural eye anomalies that can impair vision. Neurological manifestations are among the most significant and include intracranial and intraspinal lipomas, cortical dysplasia, seizures, intellectual disability of variable severity, and calcifications. Some patients may also develop low-grade brain tumors. There is no cure for ECCL, and management is supportive and symptom-based. Treatment may include antiepileptic medications for seizure control, surgical intervention for symptomatic lipomas or tumors, ophthalmologic management for eye abnormalities, and developmental support services for children with intellectual disability. The prognosis varies widely depending on the severity of neurological involvement. Given the rarity of the condition, patients benefit from multidisciplinary care involving dermatology, neurology, ophthalmology, and neurosurgery specialists.

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