Multigenerational Huriez syndrome with marked intrafamilial heterogeneity and cutaneous squamous cell carcinoma burden
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ID: 329739
2026
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Abstract
Huriez syndrome is a rare SMARCAD1-associated genodermatosis with variable clinical expression and cutaneous cancer risk. We describe a multigenerational family with a SMARCAD1 splice-site duplication affecting the skin-specific isoform, associated with marked phenotypic heterogeneity. This case highlights the importance of molecular diagnosis for cancer surveillance and family counselling.
| Reference Key |
openalex_W7214302938
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|---|---|
| Authors | Brent J. Doolan, Yiming Wang, Irene Lara‐Corrales, Michelle Lee, Andrea Shugar, Pope Elena |
| Journal | clinical and experimental dermatology |
| Year | 2026 |
| DOI |
10.1093/ced/llag413
|
| URL | |
| Keywords | Keywords not found |
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