Encephalocraniocutaneous lipomatosis

A Filipino male with encephalocraniocutaneous lipomatosis (Haberland’s syndrome)

“…Nonetheless, it has been noted that the severity of the neurologic lesions do not correlate with the severity of neurologic manifestations or the degree of skin and ocular lesions. 1 Skeletal findings that have been described among ECCL patients include jaw tumors and multiple bone cysts. Congenital heart defects have also been observed in some patients.…”

“…ECCL patients may also present with colobomas, corneal and scleral abnormalities, aniridia, microphthalmia and globe calcification. 1 Clinically, ECCL patients present with a wide range of neurological manifestations -from having normal development without seizures to having intractable seizures and severe mental and psychomotor delay. Imaging studies reveal variable brain and spinal anomalies, including lipomas, calcifications, hemispheric atrophy, and hydrocephalus.…”

“…1 Our patient fulfilled one major skin criterion (proven nevus psiloliparus) and one minor skin criterion (subcutaneous lipoma on the frontotemporal region). He also had a choristoma (major eye criterion) and a coloboma (minor criterion).…”

“…A study conducted by Moog in 2009, identified 54 cases of ECCL. 1 Review of these cases, PubMed and the Health Research and Development Network (HERDIN) revealed no reported cases of ECCL in a Filipino.…”

“…ECCL patients present with a broad spectrum of clinical manifestations, often in a unilateral distribution. 1,2 The hallmark of ECCL is the nevus psiloliparus, a soft, bulging, lipomatous scalp lesion, with associated alopecia. A study conducted by Moog in 2009, identified 54 cases of ECCL.…”