Living with Encephalocraniocutaneous lipomatosis
A rare condition present from birth that affects the brain, eyes, and skin of the head and face, with fatty growths under the scalp.
Understanding Encephalocraniocutaneous lipomatosis
Most signs are present from birth and vary widely. A hallmark is a noncancerous fatty lump under the scalp covered by a smooth, hairless patch of skin. Many people have skin tags on the eyelids, hair loss, thin scalp skin, and eye growths called choristomas. About two-thirds have fatty tumors in the brain or around the spinal cord. These can cause seizures, muscle tensing, and intellectual disability from mild to profound, though about one-third have normal intelligence. There is an increased risk of a brain tumor called glioma.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fatty lump under the scalp with hairless skin
- Eye growths or cornea changes
- Skin tags around the eyes
- Calcium deposits in the brain
- Missing corpus callosum (part of the brain)
- Seizures and learning difficulties
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in FGFR1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Children's Skin Disease Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the FGFR1 gene cause this condition.
Also known as: eccl; eccl - encephalocraniocutaneous lipomatosis; encephalocraniocutaneous lipomatosis, somatic mosaic; fishman syndrome; haberland syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Encephalocraniocutaneous lipomatosis.
Explore research for Encephalocraniocutaneous lipomatosis
Explore actively recruiting Encephalocraniocutaneous lipomatosis studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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