Disease - Becker nevus syndrome
- DefinitionA syndrome characterized by the association of Becker nevi with musculoskeletal abnormalities, unilateral breast hypoplasia, intellectual disability, developmental delay, and cardiomyopathy. Becker nevus is a cutaneous hamartoma that appears in childhood as a unilateral tan patch and increases in thickness, pigmentation, and hair growth during adolescence. Histologically, epidermal acanthosis is accompanied by irregularly dispersed ectopic smooth muscle bundles and increased terminal hair follicles. Most cases are sporadic.
- AcronymBNS
- Alternative names
- Cross references
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Browse 1 entry- Actin, cytoplasmic 1 · Gene: ACTB · Homo sapiens (Human) · EC:3.6.4.- · 375 amino acids · Evidence at protein level · Annotation score: 5/5