Living with Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
A rare genetic condition with uneven overgrowth of body parts, abnormal blood vessels, fatty lumps, and skin marks.
Understanding Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Parts of the body grow unevenly and quickly in early childhood. Other features include blood and lymph vessel malformations, fatty lumps, and skin marks in whorl patterns. It also shares features with Cowden syndrome, such as a large head and many growths in multiple organs. GARD notes an increased risk of cancer. It begins in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Uneven overgrowth of arms or legs
- Abnormal tangles of blood vessels (arteriovenous malformation)
- Fatty lumps (lipomas)
- Lymph vessel growths (lymphangioma)
- Benign growths (hamartomas)
- Poorly working veins
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 cancer specialists, genetic specialists, hormone specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in PTEN 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
- Cancer specialists (oncologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); 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
It is caused by changes in the PTEN gene. It is autosomal dominant, so one changed copy of the gene can be enough.
Also known as: segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome; solamen 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 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome.
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