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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.
No clinical trials have been registered for segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome.
3 publications have been identified in PubMed for segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).
Torchia D (2026). [PMID: 42241635](https://pubmed.ncbi.nlm.nih.gov/42241635/). *Acta Dermatovenerol Alp Pannonica Adriat*. [Review / Meta-Analysis]
Romanello D (2025). [PMID: 39557791](https://pubmed.ncbi.nlm.nih.gov/39557791/). *Dig Dis Sci*. [Case Report / Case Series]
Zhao X (2024). [PMID: 39080810](https://pubmed.ncbi.nlm.nih.gov/39080810/). *Hereditas*. [Case Report / Case Series]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:35 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center