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https://doi.org/10.4081/dr.2026.10662

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

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Published: 4 February 2026
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Multiple hereditary infundibolocystic basal cell carcinoma, SUFU, Hedgehog signaling pathway

Authors

Giulia Pascolini
g.pascolini@idi.it
Genetic Counselling Unit, Istituto Dermopatico dell’Immacolata IRCCS, Rome; Rare Skin Diseases Center, Istituto Dermopatico dell’Immacolata IRCCS, Rome, Italy.
Giovanna Floriddia
Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell’Immacolata IRCCS, Rome, Italy.
Luca Fania
Skin Cancer Center, Istituto Dermopatico dell’Immacolata IRCCS, Rome, Italy.
Barbara Bellei
Laboratory of Cutaneous Physiopathology and Integrated Center of Metabolomics Research, San Gallicano Dermatological Institute IRCCS, Rome, Italy.
Laura Eibenschutz
Oncologic and Preventative Dermatology Unit, San Gallicano Dermatological Institute IRCCS, Rome, Italy.
Vito Gomes
Pathology Anatomy Unit, Istituto Dermopatico dell’Immacolata IRCCS, Rome, Italy.
Daniele Castiglia
Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell’Immacolata IRCCS, Rome, Italy.

Dear Editor,

Germline loss-of-function variants in SUFU (MIM*607035), a component of the Hedgehog (HH) signaling pathway, have been associated with multiple hereditary infundibulocystic basal cell carcinoma (iBCC, MIM#604451). This is a yet undefined clinicopathological entity with features that are often distinct from basal cell nevus syndrome (BCNS, MIM#109400). In carriers of germline SUFU variants, basaloid neoplasms tend to arise at a later age compared with BCNS; the iBCC subtype is more frequently observed, and jaw cysts have not been reported. [...]

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Citations

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Europe PMC
1. Schulman JM, Oh DH, Sanborn JZ, et al. Multiple Hereditary Infundibulocystic Basal Cell Carcinoma Syndrome Associated With a Germline SUFU Mutation. JAMA Dermatol 2016;152:323-7.
2. Abbott JJ, Jiang AJ, Godse R, et al. Inherited Basaloid Neoplasms Associated with SUFU Pathogenic Variants. JAMA Dermatol 2024;160:1220-4.
3. Lee SG, Evans G, Stephen M, et al. Medulloblastoma and other neoplasms in patients with heterozygous germline SUFU variants: A scoping review. Am J Med Genet A 2024;194:e63496.
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1.
Pascolini G, Floriddia G, Fania L, Bellei B, Eibenschutz L, Gomes V, et al. Multiple hereditary infundibolocystic basal cell carcinoma: report of a sporadic case with a novel pathogenic germline variant in SUFU. Dermatol Reports [Internet]. 2026 Feb. 4 [cited 2026 May 20];. Available from: https://journals.pagepress.net/dr/article/view/10662
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