SNP Shot: Genomic Insights

Encephalocraniocutaneous lipomatosis (ECCL) is a rare disorder primarily impacting the brain, eyes, and skin of the head and face. Signs and symptoms, which are present at birth, differ significantly from person to person.

A key characteristic of ECCL is a benign (noncancerous) tumor beneath the scalp, distinguished by a smooth, hairless skin patch. This tumor, known as a nevus psiloliparus, consists of fatty tissue. Some individuals with ECCL also develop other benign tumors under the skin on their head or face. Many also exhibit small skin tags on and around their eyelids. Alopecia (hair loss), thin or absent skin patches on the scalp (dermal hypoplasia or aplasia), and changes in skin pigmentation are also possible manifestations.

The most prevalent eye anomaly in ECCL is a benign growth called a choristoma. These growths can appear in one or both eyes and may impair vision.

Approximately two-thirds of individuals with ECCL develop benign fatty tumors within the brain or surrounding the spinal cord, termed intracranial lipomas and intraspinal lipomas, respectively. They also face a heightened risk of developing a glioma, a type of brain cancer. These brain and spinal cord abnormalities can trigger seizures, muscle stiffness, and varying degrees of intellectual disability, ranging from mild to severe. Conversely, about one-third of those affected exhibit normal cognitive abilities.

Other types of growths, such as benign jaw tumors, may also be present in individuals with ECCL.

Inheritance:

The condition is considered sporadic, meaning it arises in individuals with no family history of the disorder. ECCL is caused by mosaic gene mutations that occur after conception, so it is not inherited from parents.