Nevoid Basal Cell Carcinomas in Gorlin Syndrome
Study Details
Study Description
Brief Summary
The overall aim of the project is to gain knowledge about the expected course of nevoid basal cell carcinomas and the usefulness of dermatoscopy in young individuals with Gorlin syndrome.
Clinical experience and some case-reports suggest that nevoid basal cell carcinomas have an indolent course with slow growth and that they can sometimes regress. However, no systematic research has previously been performed.
Increased knowledge about nevoid basal cell carcinomas and the use of dermatoscopy could be of great clinical value in the follow-up and treatment of individuals with nevoid basal cell carcinoma syndrome.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Gorlin syndrome Children aged six to seventeen years old with Gorlin syndrome and nevoid basal cell carcinomas. |
Other: Active surveillance
Skin lesions clinically compatible with nevoid basal cell carcinomas are documented with measurements, clinical description, clinical photos and dermatoscopy photos every eight months for two years. Three representative skin lesions are selected at the first visit to be removed by skin biopsy at the end of the observation period (two years) for histopathological analyses.
If a nevoid basal cell carcinoma shows a certain increases in size (according to pre-specified criteria of the study protocol), ulcerates, gets unevenly demarcated or give functional complaints during the observation period, the skin lesion will be excised.
|
Outcome Measures
Primary Outcome Measures
- Nevoid basal cell carcinoma size increase [Two years]
Largest diameter (measured in millimeter) of nevoid basal cell carcinomas after two years surveillance compared to at baseline.
- Dermatoscopy findings [Two years]
Dermatoscopy findings of nevoid basal cell carcinomas compared to nevoid basal cell carcinoma size increase.
Secondary Outcome Measures
- Nevoid basal cell carcinoma histology [Two years]
Histological analysis, including immune histochemistry, of skin biopsies obtained from representative nevoid basal cell carcinomas.
Other Outcome Measures
- Clinical manifestations associated with nevoid basal cell carcinomas [Two years]
Presence of congenital anomalities and benign neoplasias (odontogenic keratocysts, other cysts, fibromas) in patients with nevoid basal cell carcinomas.
- Mutation burden in nevoid basal cell carcinomas analyzed by next-generation sequencing [Two years]
Next-generation sequencing of DNA extracted from skin biopsies obtained from representative nevoid basal cell carcinomas, including genes described in skin carcinomas.
Eligibility Criteria
Criteria
Inclusion Criteria:
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The individual has Gorlin syndrome (clinically and/or genetically diagnosed)
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The individual is minimum 6 years and maximum 17 years
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The individual has at least three skin lesions clinically compatible with nevoid basal cell carcinomas
Exclusion Criteria:
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The patient has a psychiatric disorder not compatible with completion of the study examinations
-
The patient has received topical treatment (imiquimod, 5-fluorouracil, photodynamic therapy and/or cryotherapy) of nevoid basal cell carcinomas during the last three months
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Oslo University Hospital | Oslo | Norway | 0424 |
Sponsors and Collaborators
- Oslo University Hospital
Investigators
- Principal Investigator: Kristin Hortemo, MD, PhD, Oslo University Hospital
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- 487620