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February 4, 2026SHILAP Revista de lepidopterologíaOpen Access

Multiple hereditary infundibolocystic basal cell carcinoma: report of a sporadic case with a novel pathogenic germline variant in SUFU

Giulia Pascolini Giovanna Floriddia Luca Fania Barbara Bellei Laura Eibenschutz Vito Enzo Gomes Daniele Castiglia

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Key Points

To report a sporadic case of multiple hereditary infundibolocystic basal cell carcinoma associated with a novel SUFU variant.
Case report of a sporadic iBCC case
Genomic analysis for germline variants in SUFU
Comparison of clinical features with basal cell nevus syndrome
Identification of a novel loss-of-function variant in SUFU
Clinical features distinct from basal cell nevus syndrome
Delayed onset of basaloid neoplasms compared to BCNS

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Implication

Case report highlights a novel germline variant in SUFU leading to infundibolocystic basal cell carcinoma, indicating distinct clinical features.

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Cite This Study

Pascolini et al. (2026) studied this question.

synapsesocial.com/papers/698827570fc35cd7a8846003 https://doi.org/10.4081/dr.2026.10662

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1Clinicopathological and molecular spectrum of patients with germline <i>SUFU</i> mutations: A case series2024 · 4 citations
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