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Related Experiment Video

Updated: Mar 3, 2026

Combining Reflectance Confocal Microscopy with Optical Coherence Tomography for Noninvasive Diagnosis of Skin Cancers via Image Acquisition
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Multiple Skin Adnexal Tumours with Possible Syndromic Association.

Janavi Sridhar1, Archana Balasubramanian2, Leena Joseph2

  • 1School of Medicine, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.

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|March 2, 2026
PubMed
Summary

CYLD cutaneous syndrome (CCS) encompasses Brooke-Spiegler syndrome, multiple familial trichoepithelioma, and familial cylindromatosis. This report details a case of a woman diagnosed with multiple adnexal skin tumors consistent with CCS.

Area of Science:

  • Dermatology
  • Oncology
  • Genetics
Keywords:
brooke-spiegler syndromecyld cutaneous syndromecyld geneskin adnexal tumorsspiradenoma

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Background:

  • Brooke-Spiegler syndrome (BSS), multiple familial trichoepithelioma (MFT1), and familial cylindromatosis (FC) are autosomal dominant genetic tumor syndromes.
  • These conditions are allelic, caused by mutations in the CYLD gene, and are collectively known as CYLD cutaneous syndrome (CCS).
  • CCS predisposes individuals to multiple benign and malignant tumors of skin adnexal structures, including cylindromas, trichoepitheliomas, and spiradenomas.