Background: Gorlin syndrome, also known as the basal cell nevus syndrome (OMIM #109400), is a rare autosomal-dominant genetic disease. The disease, which shows mutation of the patched receptor gene (PTCH1) of the sonic hedgehog pathway, is characterized by developing multiple basal cell carcinomas (BCCs) in adolescent patients. Other clinical features include mandibular keratocysts, palmar and plantar pits, skeletal abnormalities and malformations central nervous system and genital tract. Gorlin-Goltz patients need multidisciplinary medical care and follow-up as well as genetic counseling if the patients want to have children. The treatment of multiple BCCs includes conventional surgery, micrographic Mohs surgery, cryotherapy, laser ablation, photodynamic therapy, imiquimod 5% cream, 5-fluorouracil cream as well as the sonic hedgehog pathway inhibitor vismodegib. Case Report: We report the case of a 30-year-old woman seen in our dermatological department since 2003. All the above-mentioned modalities had been employed for her numerous BCCs. The patient grew wary of the surgical procedures because of the countless scars. We successfully treated multiple BCCs with ingenol mebutate without post-inflammatory scarring. At 8-month follow-up, the patient shows no recurrence of the treated lesions. Conclusion: Ingenol mebutate can be used to treat (superficial) BCCs in patients with Gorlin-Goltz syndrome as an additional modality. Close clinical follow-up is recommended.

Keywords:
Gorlin syndrome, Basal cell nevus syndrome, Ingenol mebutate, Basal cell carcinoma, PTCH1 gene mutation, Vismodegib
1.
Bonifas JM, Pennypacker S, Chuang PT, et al: Activation of expression of hedgehog target genes in basal cell carcinomas. J Invest Dermatol 2001;116:739-742.
2.
Pino LC, Balassiano LK, et al: Basal cell nevus syndrome: clinical and molecular review and case report. Int J Dermatol 2016;55:367-375.
3.
Acocella A, Sacco R, Bertolai R, Sacco N: Genetic and clinicopathologic aspects of Gorlin-Goltz syndrome (NBCCS): presentation of two case reports and literature review. Minerva Stomatol 2009;58:43-53.
4.
Baliga SD, Rao SS: Nevoid-basal cell carcinoma syndrome: a case report and overview on diagnosis and management. J Maxillofac Oral Surg 2010;9:82-86.
5.
Weiss GJ, Tibes R, et al: Long-term safety, tolerability, and efficacy of vismodegib in two patients with metastatic basal cell carcinoma and basal cell nevus syndrome. Dermatol Reports 2011;3:e55.
6.
Cantisani C, Paolino G, et al: Superficial basal cell carcinoma successfully treated with ingenol mebutate gel 0.05%. Dermatol Ther 2014;27:352-354.
© 2016 S. Karger AG, Basel
2016
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.