10.5826/dpc.1201a38
text/xml
2160-9381
1715
en
Pietro Rubegni
https://creativecommons.org/licenses/by-nc/4.0
Dermatology Practical & Conceptual
dermoscopy
Gorlin Goltz Syndrome: Beware of Melanoma
Text.Serial.Journal
https://dpcj.org/index.php/dpc
Research Letter
2022-02-02
2021-03-11
2022-02-02
2022-02-09
e2022038
Dermatol Pract Concept
Pietro Rubegni
2022/02/02
10.5826/dpc.1201a38
e2022038
Department of Medical, Surgical and Neurological Science, Dermatology Section, University of Siena, S. Maria alle Scotte Hospital, Siena, Italy
2160-9381
dermoscopy
en
e2022038
Briatico G, Moscarella E, Ronchi A, Procaccini EM, Argenziano G. In Situ Melanoma Collision With a Basal Cell Carcinoma in a Patient With Basal Cell Nevus Syndrome: Clinical and Dermoscopic Features. Dermatol Pract Concept. 2019;9(4):310-312. DOI: 10.5826/dpc.0904a16. PMID: 31723471. PMCID: PMC6830545.
Gorlin Goltz Syndrome: Beware of Melanoma
https://dpcj.org/index.php/dpc/article/download/1715/1491
         Gorlin Goltz Syndrome: Beware of Melanoma
            Filomena Russo1, Flavio Giulio Liso1, Francesco Santi1, Luca Provvidenziale1,
                                Paolo Taddeucci1, Pietro Rubegni1


1 Department of Medical, Surgical and Neurological Science, Dermatology Section, University of Siena, S. Maria alle Scotte Hospital, Siena, Italy



Key words: Gorlin Goltz syndrome, melanoma, reflectance confocal microscopy, dermoscopy
Citation: Russo F, Liso FG, Santi F, Provvidenziale L, Taddeucci P, Rubegni P. Gorlin goltz syndrome: beware of melanoma.
Dermatol Pract Concept. 2022;12(1):e2022038. DOI: https://doi.org/10.5826/dpc.1201a38
Accepted: July 5, 2021; Published: January 2022
Copyright: ©2022 Russo et al. This is an open-access article distributed under the terms of the Creative Commons Attribution
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: Francesco Santi, MD, Dermatology Section, University of Siena, S. Maria alle Scotte Hospital, Siena, Italy.
E-mail: santifrancesco90@gmail.com




Introduction                                                              ­predominantly involving her face and upper back as well
                                                                          as multiple jaw cysts. After she had undergone multiple
Gorlin Goltz syndrome, also known as basal cell nevus syn-                surgical procedures, she started vismodegib with a daily
drome, is a rare autosomal dominant multisystem disorder.                 dose of 150 mg from November 2019. Clinical follow-up
The “signature” feature of Gorlin Goltz syndrome is an earlier            after 3 months showed progressive improvement in the
onset and a higher number of Basal Cell Carcinomas (BCC),                 size of the lesions. On a further follow-up visit in March
median of 160 BCCs in an average lifetime [1]. The genetic                2020, the patient continued to show improvement, but a
base of this syndrome is mainly to be found in pathologic con-            7-mm pigmented oval-shaped lesion was noted on her scalp
stitutive activation of the Sonic Hedgehog signaling pathway.             (Figure 1A). On 20x polarized dermoscopy regression struc-
Patients with this syndrome, beyond numerous BCCs, can                    tures, irregular dark blue pigmented blotches and a brownish
also present a wide spectrum of manifestations such as: jaw               peripheral network reminiscent of leaf-like structures were
odontogenic keratocysts, palmoplantar pits, lamellar calcifi-             seen, leading to a possible diagnosis of BCC versus mela-
cation of the falx cerebri, skeletal abnormalities, childhood             noma (Figure 1B). However, reflectance confocal microscopy
medulloblastomas and cardiac or ovarian fibromas.                         (RCM, Vivascope 3000, Caliber) examination showed pag-
                                                                          etoid infiltration of round and dendritic atypical cells in the
                                                                          epidermis and irregular meshwork at the dermo-epidermal
Case Presentation
                                                                          junction (Figure 1C), suggesting the diagnosis of melanoma.
A 60-year-old Caucasian woman was referred to our                         An excisional biopsy was performed, and the histopatholog-
department because she had been diagnosed with Gorlin                     ical examination revealed an invasive melanoma with 0.48
Goltz syndrome, with a 20-year history of multiple BCCs                   Breslow thickness with conspicuous regression (>75%).




Research Letter | Dermatol Pract Concept. 2022;12(1):e2022038                                                                                  1
Figure 1. (A) Clinical and (B) dermoscopy aspect. 20x polarized dermoscopy shows regression structures, irregular dark blue pigmented
blotches and a brownish peripheral network reminiscent of leaf-like structures. (C) Reflectance confocal microscopy (RCM) examination
showed pagetoid infiltration of round and dendritic atypical cells in the epidermis.




Conclusion                                                          RCM in Gorlin Goltz syndrome patients to identify ambig-
                                                                    uous lesions in order to discriminate melanoma from BCC,
The presence of melanomas in Gorlin Goltz syndrome is rare
                                                                    and therefore avoid therapeutical errors and allow clinicians
and there are only a few documented cases in the literature
                                                                    to act promptly. Nonetheless this case highlights the impor-
[2]. Since melanomas of the scalp frequently display non-­
                                                                    tance of performing a complete body examination. Lesions
classic melanoma dermoscopic criteria they can simulate
                                                                    in areas difficult to explore such as the scalp, in particular
other tumors, amongst which BCC is one. Indeed, typical
                                                                    in non-bald patient where the presence of hair may hinder a
dermoscopic features of pigmented basal cell carcinomas
                                                                    quick examination, could be easily failed to spot resulting in
such as large blue-gray ovoid nests and arborizing vessels
                                                                    a delayed treatment.
can also be found in melanoma. RCM is able to diagnose
BCCs mimicking melanoma at dermoscopy as well as mel-
anoma mimicking BCCs. Typically, BCCs on RCM display                References
the presence of tight basaloid islands, peripheral clefting
                                                                     1. Solis DC, Kwon GP, Ransohoff KJ, et al. Risk Factors for Basal
and increased dermal vasculature whereas melanoma of the                Cell Carcinoma Among Patients With Basal Cell Nevus ­Syndrome:
scalp usually, under RCM, has irregular meshwork patterns               Development of a Basal Cell Nevus Syndrome Patient Registry.
associated with the presence of nests of atypical melanocytes           JAMA Dermatol. 2017;153(2):189-192. DOI: 10.1001/jamader-
at the dermo-­epidermal junction. The systematic use of RCM             matol.2016.4347. PMID: 27902821..
                                                                     2. Briatico G, Moscarella E, Ronchi A, Procaccini EM, ­Argenziano
on these multiple inconspicuous lesions has enabled clinicians
                                                                        G. In Situ Melanoma Collision With a Basal Cell Carcinoma
to arrive at a diagnosis of BCC or a melanocytic lesion in few
                                                                        in a Patient With Basal Cell Nevus Syndrome: Clinical and
minutes, and with a high level of confidence, since clear-cut           Dermoscopic Features. Dermatol Pract Concept. 2019;9(4):
confocal criteria can be observed. Our case highlights the ben-         310-312. DOI: 10.5826/dpc.0904a16. PMID: 31723471.
efits of using a combined approach between dermoscopy and               PMCID: PMC6830545..




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