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Encephalocraniocutaneous lipomatosis
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Conditions

Encephalocraniocutaneous lipomatosis

Encephalocraniocutaneous lipomatosis is a rare congenital condition that primarily affects the brain, eyes, and skin of the head and face. It is characterized by noncancerous fatty tumors and other distinct physical abnormalities.

Overview and Symptoms

Encephalocraniocutaneous lipomatosis (ECCL) is a rare condition with signs and symptoms that are usually present from birth and vary widely among affected individuals. The condition primarily impacts three areas of the body:

Skin Abnormalities

  • A hallmark feature of ECCL is a nevus psiloliparus, which is a noncancerous tumor made of fatty tissue under the scalp, covered by a smooth, hairless patch of skin.
  • Noncancerous tumors under the skin elsewhere on the head or face.
  • Small flaps of skin called skin tags on the eyelids and around the eyes.
  • Hair loss (alopecia), thin or missing patches of skin on the scalp (dermal hypoplasia or aplasia), and changes in skin coloring (pigmentation).

Eye Abnormalities

  • The most common eye abnormality is a noncancerous growth called a choristoma. These growths can occur in one or both eyes and may affect vision.

Brain and Spinal Cord Abnormalities

  • About two-thirds of people with ECCL have noncancerous fatty tumors inside the brain (intracranial lipomas) or around the spinal cord (intraspinal lipomas).
  • An increased risk of developing a type of brain cancer called a glioma.
  • Neurological complications including seizures, abnormal tensing of the muscles, and intellectual disability ranging from mild to profound. However, about one-third of affected individuals have normal intelligence.

Other types of growths, including noncancerous jaw tumors, may also occur in individuals with ECCL.

Frequency

ECCL is an extremely rare disorder. Fewer than 60 cases have been reported in the medical literature.

Causes and Genetic Factors

ECCL can result from mutations in the FGFR1 gene, which provides instructions for making the fibroblast growth factor receptor 1 (FGFR1) protein. This receptor interacts with fibroblast growth factors (FGFs) to trigger cellular signaling involved in cell division, growth, and maturation, which is critical for normal development, including that of the brain.

The FGFR1 gene mutations that cause ECCL arise randomly in a single cell during early embryonic development before birth. This results in mosaicism, a mixture of cells with and without the genetic mutation. In cells carrying the altered gene, the FGFR1 protein is overactive, triggering abnormal signaling that drives the growth of noncancerous tumors and other features of ECCL.

In some individuals with ECCL, no FGFR1 gene mutation is identified, and the cause of the disease remains unknown. Other genetic changes are currently under study.

Inheritance Pattern

This condition is described as sporadic because it occurs in people with no history of the disorder in their family. Because ECCL results from somatic gene mutations that occur after conception, individuals do not inherit the condition from their parents, nor do they pass it on.

Other Names for This Condition

  • ECCL
  • Fishman syndrome (formerly)
  • Haberland syndrome (formerly)

Frequently Asked Questions

The most common eye abnormality in ECCL is a choristoma, which is a noncancerous growth of normal tissue in an abnormal location within the eye. These growths can occur in one or both eyes and may affect vision depending on their size and location. Other eye abnormalities may include skin tags on the eyelids, which can interfere with blinking or vision if they are large. Regular ophthalmological exams are necessary to monitor vision and manage any complications that may arise from these eye abnormalities.
The prognosis varies significantly among individuals. Approximately one-third of people with ECCL have normal intelligence, while others may experience mild to profound intellectual disability. Seizures are a common neurological complication, and their severity and frequency can differ widely. Early intervention, including physical therapy, speech therapy, and anti-seizure medication, can help manage symptoms and improve quality of life. Regular neurological follow-up is essential to monitor for changes in cognitive function or seizure activity.
The fatty tumors (lipomas) associated with ECCL are noncancerous (benign). They typically do not require surgical removal unless they cause significant cosmetic concerns, pain, or functional impairment. However, individuals with ECCL have an increased risk of developing gliomas, which are a type of brain cancer. Therefore, regular monitoring with MRI is recommended to detect any early signs of malignant transformation or new growths that may require intervention.
Diagnosis is primarily clinical, based on the presence of characteristic skin findings such as a nevus psiloliparus (a hairless, fatty patch on the scalp) or skin tags on the eyelids. However, imaging is crucial to assess brain and spinal cord involvement. MRI is the standard imaging modality used to detect intracranial or intraspinal lipomas and to monitor for any signs of glioma or other structural abnormalities. Genetic testing is not currently standard for diagnosis, as the specific genetic cause is not yet fully defined in most cases.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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