Encephalocraniocutaneous Lipomatosis (Haberland Syndrome or Fishman Syndrome)

Abstract

Encephalocraniocutaneous lipomatosis is a sporadic, congenital neurocutaneous disorder characterized by the involvement of skin, central nervous system, and eye. A non-hereditary, autosomal mutation that may survive only in a mosaic state may be the cause of the clinical picture of the syndrome. Less than 80 patients have been so far reported and their clinical manifestations consisted of unilateral lipomatous hamartoma of the scalp or eyelid, epibulbar choristomas, and ipsilateral brain malformations. There is no clinical correlation between the severity of brain malformations and the clinical manifestations, and many patients with extremely extensive cerebral abnormalities are only minimal symptomatic. Seizures and mental retardation may also occur. The natural history is often favorable, without drug-resistant seizures and normal intelligence in most of the cases.

Alopecia, ocular, and cranial abnormalities in a newborn

“…7 Other diseases included in the differential diagnosis of ECCL include nevus sebaceous syndrome of Schimmelpenning (sebaceous nevus, epilepsy, intellectual disability), oculocerebrocutaneous syndrome (periorbital skin appendages, intracranial cysts, coloboma), and CLOVES syndrome (congenital lipomatous overgrowth, vascular anomalies, epidermal nevi, and skeletal deformities). 8,9 Management of ECCL includes symptomatic treatment, surgical intervention, and screening for reported comorbidities. In patients with epileptiform activity, anti-epileptic medication is the initial treatment of choice; however, refractory cases may require surgery.…”

“…In patients with epileptiform activity, anti-epileptic medication is the initial treatment of choice; however, refractory cases may require surgery. 8 Skin tags and ocular lesions such as choristomas, a benign, congenital heterotopic ocular tumor, may require surgical removal.…”

“…Non-neurological neoplasms such as ossifying fibromas, osteomas, and odontomas have also been reported. 8 Neurological signs and symptoms of ECCL often do not correlate with the extent of intracranial abnormalities. Many patients, when followed into adulthood, have shown no signs of intellectual disability and can function with limited activity restrictions.…”

“…Many patients, when followed into adulthood, have shown no signs of intellectual disability and can function with limited activity restrictions. 7,8 This emphasizes the importance of a multi-disciplinary team comprised of neurologists, ophthalmologists, surgeons, dentists, and dermatologists working together to provide patients with ECCL with a high quality of care.…”