segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
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.
MONDO:0005073
melanocytic nevus
is_a
MONDO:0017623
PTEN hamartoma tumor syndrome
is_a
MONDO:0019716
overgrowth syndrome
is_a
MONDO:0100118
hereditary skin disorder
is_a
SOLAMEN syndrome
exact