Segmental basaloid follicular hamartomas derive from a post‐zygotic SMO p.L412F pathogenic variant and express hair follicle development‐related proteins in a pattern that distinguish them from basal cell carcinomas
Atzmony L, Ugwu N, Bercovitch LG, Robinson‐Bostom L, Ko CJ, Myung P, Choate KA. Segmental basaloid follicular hamartomas derive from a post‐zygotic SMO p.L412F pathogenic variant and express hair follicle development‐related proteins in a pattern that distinguish them from basal cell carcinomas. American Journal Of Medical Genetics Part A 2022, 188: 3525-3530. PMID: 35972041, PMCID: PMC9669121, DOI: 10.1002/ajmg.a.62951.Peer-Reviewed Original ResearchMeSH KeywordsCarcinoma, Basal CellHair FollicleHamartomaHedgehog ProteinsHumansSkin DiseasesSkin NeoplasmsSmoothened ReceptorConceptsBasal cell carcinomaCell carcinomaFollicular hamartomaProliferation indexBasaloid skin tumorsSporadic basal cell carcinomasBasaloid follicular hamartomaKi-67 expressionLow proliferation indexCentral nervous systemWhole-exome sequencingSystemic involvementExpression of hedgehogMultiple lesionsSkin tumorsWnt/beta-catenin pathwayBasaloid lesionsNervous systemVariable involvementPathogenic variantsSegmental distributionPost-zygotic mutational eventSOX-9 expressionNormal tissuesExome sequencing