Becker Naevus Syndrome Associated With a Mosaic Pathogenic Variant in ACTB
Becker naevus syndrome hyperpigmented patch increased hair growth café-au-lait macule marfanoid phenotype scoliosis joint hypermobility skin laxity pectus excavatum mitral valve prolapse tachyarrhythmias ACTB gene cell migration cell signaling cell proliferation Becker's nevus hyperpigmentation hair growth café-au-lait spot marfanoid features curved spine flexible joints loose skin sunken chest heart valve issues irregular heartbeat
Studysummary This case report describes a 15-year-old girl with features of Becker naevus syndrome, highlighting the importance of DNA analysis from skin to confirm the diagnosis after 9 years of symptoms.
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