Expanding the paradigm of the recurrent mosaic <i>SMO</i> c.1234C&gt;T variant: a linear blaschkoid congenital lesion with multiple basal cell carcinomas

We describe a linear blaschkoid congenital lesion comprising multiple basal cell carcinomas and basaloid follicular hamartomas. This description of a cutaneous-only basal cell naevus syndrome phenotype adds to the mosaic hedgehog spectrum, highlighting the relevance and varied presentations of the recurrent, mosaic SMO c.1234C&gt;T.

Authors

Bruce Thompson (ORCID: https://orcid.org/0000-0002-5885-0652)
Adriene Y L Lee
Ingrid Winship (ORCID: https://orcid.org/0000-0001-8535-6003)
Samuel Roberts-Thomson (ORCID: https://orcid.org/0000-0002-1168-5653)
Lynn Tan

Institutions

The Royal Melbourne Hospital (AU)
The University of Melbourne (AU)
St Vincent's Hospital Melbourne (AU)

Publication Details

Journal: Clinical and Experimental Dermatology
Published: 2025-12-22
DOI: https://doi.org/10.1093/ced/llaf561
Primary Topic: Hedgehog Signaling Pathway Studies
Type: article
Field-Weighted Citation Impact: 0.00

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article

Expanding the paradigm of the recurrent mosaic SMO c.1234C>T variant: a linear blaschkoid congenital lesion with multiple basal cell carcinomas

Bruce Thompson, Adriene Y L Lee, Ingrid Winship, Samuel Roberts-Thomson et al.

Dec 22, 2025

Clinical and Experimental Dermatology

Hedgehog Signaling Pathway Studies

article

Expanding the paradigm of the recurrent mosaic SMO c.1234C>T variant: a linear blaschkoid congenital lesion with multiple basal cell carcinomas

Bruce Thompson, Adriene Y L Lee, Ingrid Winship, Samuel Roberts-Thomson, Lynn Tan

December 22, 2025article en

Abstract

We describe a linear blaschkoid congenital lesion comprising multiple basal cell carcinomas and basaloid follicular hamartomas. This description of a cutaneous-only basal cell naevus syndrome phenotype adds to the mosaic hedgehog spectrum, highlighting the relevance and varied presentations of the recurrent, mosaic SMO c.1234C&gt;T.

Clinical and Experimental DermatologyVol. 51(4)

The Royal Melbourne Hospital (AU), The University of Melbourne (AU), St Vincent's Hospital Melbourne (AU)

Openalex Percentile: Top 37%

Hedgehog Signaling Pathway Studies

DOI Source OpenAlex

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Expanding the paradigm of the recurrent mosaic <i>SMO</i> c.1234C&gt;T variant: a linear blaschkoid congenital lesion with multiple basal cell carcinomas — Bruce Thompson, Adriene Y L Lee, et al. · Clinical and Experimental Dermatology (2025) | TGRS Research Map | TGRS