10.5826/dpc.1201a19
text/xml
2160-9381
1697
en
Leoncio Muñoz-Uslar
https://creativecommons.org/licenses/by-nc/4.0
Dermatology Practical & Conceptual
vismodegib
Gorlin Syndrome: Sequential Digital Dermoscopy of Palpebral Basal Cell Carcinomas in a Patient Treated With Vismodegib
Text.Serial.Journal
https://dpcj.org/index.php/dpc
Research Letter
2022-02-02
2021-03-01
2022-02-02
2022-02-09
e2022019
Dermatol Pract Concept
Leoncio Muñoz-Uslar
2022/02/02
10.5826/dpc.1201a19
e2022019
Dermatology Service, Hospital del Salvador, Santiago, Chile
2160-9381
vismodegib
en
e2022019
Grajdeanu IA, Vata D, Statescu L, et al. Use of imaging techniques for melanocytic naevi and basal cell carcinoma in integrative analysis (Review). Exp Ther Med. 2020;20(1):78-86. DOI: 10.3892/etm.2020.8620. PMID: 32508998; PMCID: PMC7271701.
Gorlin Syndrome: Sequential Digital Dermoscopy of Palpebral Basal Cell Carcinomas in a Patient Treated With Vismodegib
https://dpcj.org/index.php/dpc/article/download/1697/1503
    Gorlin Syndrome: Sequential Digital Dermoscopy
     of Palpebral Basal Cell Carcinomas in a Patient
               Treated with Vismodegib
             Luis Mena-Vergara1, Mariana Silva-Astorga1, Carolina Carrasco-Cancino1,
                                     Leoncio Muñoz-Uslar2


1 Department of Dermatology, Faculty of Medicine, University of Chile, Santiago, Chile
2 Dermatology Service, Hospital del Salvador, Santiago, Chile



Key words: Gorlin syndrome, digital dermoscopy, palpebral basal cell carcinoma, vismodegib
Citation: Mena-Vergara L, Silva-Astorga M, Carrasco-Cancino C, Muñoz-Uslar L. Gorlin syndrome: sequential digital dermoscopy of
palpebral basal cell carcinomas in a patient treated with vismodegib. Dermatol Pract Concept. 2022;12(1):e2022019.
DOI: https://doi.org/10.5826/dpc.1201a19
Accepted: May 26, 2021; Published: January 2022
Copyright: ©2022 Mena-Vergara et al. This is an open-access article distributed under the terms of the Creative Commons Attribution-
NonCommercial License (BY-NC-4.0), https://creativecommons.org/licenses/by-nc/4.0/, which permits unrestricted noncommercial use,
distribution, and reproduction in any medium, provided the original authors and source are credited.
Funding: None.
Competing interests: None.
Authorship: All authors have contributed significantly to this publication.
Corresponding author: Mariana Silva Astorga, Department of Dermatology, University of Chile, Santiago, Chile.
E-mail: valesilva.astorga@gmail.com




Introduction                                                             Case Presentation
Gorlin-Goltz syndrome (GS) is a multi-system genetic disorder,           A 58-year-old man with GS diagnosed at age of 7 years,
characterized by the development of jaw keratocystic odonto-             presented with over 50 tumoral lesions and the presence
genic tumors (KOT) and multiple basal cell carcinoma (BCC)               of multiple BCCs in both eyelids was noted (Figure 1A).
at young ages. Patients inherit a defective copy of PTCH1, a             He had history of several surgical interventions to remove
tumor suppressor gene, responsible for hedgehog pathway sig-             KOTs and BCCs with torpid evolution and development
naling (HPS) inhibition. PTCH1 mutations and loss of the re-             of retractile scars that in turn required advanced plastic
maining wild-type allele are also exhibited in >90% of sporadic          surgical treatment to maintain functionality, resulting in
BCCs [1]. While most cases are amenable to surgery, locally              aesthetic alterations (Figure 1A). Due to the high risk of
advanced BCCs and unresectable tumors represent a complex                causing severe ocular morbidity with a new surgery, vis-
scenario, in which HPS inhibitors may be a feasible treatment            modegib was initiated, resulting in a significant c­linical
option with better clinical outcomes [1]. Digital images can be          response after 2 months. SSD was performed before and
useful in following up BCC response to treatment [2].                    during treatment, and it revealed shrinking of palpe-
    We describe the involution of BCCs dermoscopic c­ riteria            bral tumors and regression of dermoscopic structures
recorded with sequential digital dermoscopy (SDD), in a                  (Figures 1 and 2).
­patient with GS during treatment with vismodegib.




Research Letter | Dermatol Pract Concept. 2022;12(1):e202201
                                          2022;12(1):e2022019                                                                          1
Figure 1. (A) Retractile scars due to several surgical interventions with secondary bilateral ectropion and ptosis. Multiple BCCs involving
the scalp and periocular area (white arrows). (B) Pigmented BCC in superior left eyelid before vismodegib: typical dermoscopic structures,
blue-gray globules, ovoid nest and arborizing vessels (blue arrow). (C) Week 2: Disappearance of some globules (white circle) and less noto-
rious telangiectasia (blue arrows). (D) Week 7: Arborizing vessels are no longer visible (blue circle). (E) Week 8: Notable regression of BCC
structures; only a few blue-gray globules persist.




               Figure 2. Nonpigmented basal cell carcinoma (BCC) in superior left eyelid. (A) Before vismodegib. ­Dermoscopic
               structures of a nonpigmented BCC: Multiple fine telangiectasia (red circle), crusting (blue a­ rrows), whitish
               unstructured zones (green arrows). (B) Week 2: Notable less crusting and shrinking of whitish unstructured
               areas (green stars). (C) Week 7: A few fine telangiectasias persist, whitish areas are no longer visible, and some
               white shiny lines can be identified (black arrows). (D) Week 8: Almost no white lines and vessels remain.



2                                                                             Research Letter | Dermatol Pract Concept. 2022;12(1):e2022019
Conclusions                                                      BCC dermoscopic criteria correlates with tumor persistence
                                                                 or histopathologic clearance respectively [2]. Blue-gray glob-
The presence of multiple BCCs is a hallmark finding in GS        ules and ovoid nests can be detected for a longer period of
[1]. BCC accounts for 90% of malignant periocular tumors         time, whereas other typical structures decrease in size and
and represents 4.4%-18.0% of all BCCs [1]. Most periocu-         number after chemotherapy initiation [2]. There is lack of
lar BCCs are curable with surgery; however, in patients with     evidence about SDD of BCCs in patients with GS treated
more extensive involvement, a surgical resection with cura-      with vismodegib.
tive intent may lead to substantial morbidity or deformity          SDD may help in detecting subtle changes and in facili-
because of the need to remove periocular or orbital tissues      tating the diagnosis of recurrence or progression of BCCs in
that results in reduced functionality and quality of life [1].   patients treated with vismodegib or alternative treatments
Other therapeutic modalities such as photodynamic therapy        other than surgery.
and topical medications have been used as treatments for
small or superficial BCCs. Radiotherapy should be avoided
in GS [1].
                                                                 References
   Vismodegib is a first-in-class inhibitor of the HPS, and it   1. Herms F, Lambert J, Grob JJ, et al. Follow-Up of Patients With
reduces BCC tumor burden and blocks the growth of new               Complete Remission of Locally Advanced Basal Cell C­ arcinoma
BCCs in patients with GS [1]. Vismodegib has shown supe-            After Vismodegib Discontinuation: A Multicenter French Study
                                                                    of 116 Patients. J Clin Oncol. 2019;37(34):3275-3282. DOI:
rior outcomes compared to other therapies; however, com-
                                                                    10.1200/JCO.18.00794. PMID: 31609670. Grajdeanu IA,
plete histologic clearance is not always achieved, and risk of
                                                                    Vata D, Statescu L, et al. Use of imaging techniques for mela-
progression or recurrence has been described after treatment        nocytic naevi and basal cell carcinoma in integrative analysis
cessation [1]. SDD is used for monitoring BCCs response to          (Review). Exp Ther Med. 2020;20(1):78-86. DOI: 10.3892/
topical chemotherapy [2]. The presence or disappearance of          etm.2020.8620. PMID: 32508998; PMCID: PMC7271701.




Research Letter | Dermatol Pract Concept. 2022;12(1):e2022019                                                                   3
