Related Experiment Video
Updated: Jan 9, 2026
Cell Population Analyses During Skin Carcinogenesis
Published on: August 21, 2013
Advanced CYLD Cutaneous Syndrome (CCS) Treated With the Hedgehog Signaling Pathway Inhibitor Vismodegib Results in a
Jeanette Kaae1, Lise Mette Rahbek Gjerdrum2, Tim Svenstrup Poulsen3
1Department of Dermatology, Copenhagen University Hospital, Zealand University Hospital, Roskilde, Denmark.
Abstract:
CYLD Cutaneous syndrome (CCS) is a rare autosomal dominantly inherited disease associated with multiple nodular adnexal skin tumors, most commonly trichoepitheliomas and cylindromas. There is no evidence-based treatment for this disease. This study aimed to present the histological response and to investigate whether molecular and immunohistochemical analyses (exome sequencing) may provide insight into the rapid disease development and lack of response to treatment with Vismodegib. A patient treated with the Hedgehog Pathway Inhibitor Vismodegib. The CYLD (c.1437_1438del, p.Pro480PhefsTer16) frameshift deletion was identified in the family of our patient. In addition, our patient also lost the unaffected allele and was consequently homozygous for the deletion. Treatment with Vimodegib was unfortunately not effective. Furthermore, we observed no possible biomarkers of progression and/or treatment response. Hopefully, further studies will contribute to the genetic understanding of BSS and identify patients at high risk of developing severe disease, thereby supporting the stratification of patients who will benefit from early surgical treatment or treatment with Vismodegib.
Insights
CYLD Cutaneous Syndrome (CCS) is a rare genetic skin disorder. Vismodegib treatment showed no effectiveness, and no biomarkers for progression or response were identified in this patient.
Area of Science:
- Genetics
- Dermatology
- Oncology
Background:
- CYLD Cutaneous Syndrome (CCS) is a rare autosomal dominant disorder.
- It manifests as multiple nodular adnexal skin tumors, including trichoepitheliomas and cylindromas.
- Currently, no evidence-based treatments exist for CCS.
Purpose of the Study:
- To present the histological response to Vismodegib in a CCS patient.
- To investigate molecular and immunohistochemical analyses for insights into disease progression.
- To evaluate the efficacy of Vismodegib, a Hedgehog Pathway Inhibitor, in treating CCS.
Main Methods:
- Case study of a patient with CYLD Cutaneous Syndrome treated with Vismodegib.
- Exome sequencing to identify genetic mutations.
- Histological analysis of skin tumors.
- Molecular and immunohistochemical analyses.
Main Results:
- The patient had a homozygous CYLD frameshift deletion (c.1437_1438del, p.Pro480PhefsTer16).
- Vismodegib treatment was ineffective.
- No biomarkers for disease progression or treatment response were identified.
Conclusions:
- Vismodegib is not effective for this patient's CYLD Cutaneous Syndrome.
- Further research is needed to understand CCS genetics and identify predictive biomarkers.
- Stratification for early surgical or Vismodegib treatment requires further investigation.
More Related Videos
07:26Quantitative PCR-based Assay to Measure Sonic Hedgehog Signaling in Cellular Model of Ciliogenesis
Published on: January 31, 2025
08:29Ex Vivo Treatment Response of Primary Tumors and/or Associated Metastases for Preclinical and Clinical Development of Therapeutics
Published on: October 2, 2014
Related Concept Videos
02:33Hedgehog Signaling Pathway
01:19Clinical Applications of Epidermal Stem Cells
01:29Drugs for Treatment of Crohn's Disease in IBD Using Immunomodulatory Agents