segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Findings
No curated finding names segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.
Definition from the Mondo Disease Ontology (MONDO:0015293), read 2026-09-29. CC BY 4.0.
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Arteriovenous malformationHPOHP:0100026
- Very frequent (80% to 99% of cases)
- Excessive wrinkled skinHPOHP:0007392
- Very frequent (80% to 99% of cases)
- Lower limb asymmetryHPOHP:0100559
- Very frequent (80% to 99% of cases)
- LymphangiomaHPOHP:0100764
- Very frequent (80% to 99% of cases)
- PapuleHPOHP:0200034
- Very frequent (80% to 99% of cases)
- Subcutaneous nodule
Where it sits
Other names
1 name
Resolves to: segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
- Also called
- SOLAMEN syndrome