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Dermatol Reports
DR
Dermatology Reports
2036-7392
2036-7406
PAGEPress Publications, Pavia, Italy

10.4081/dr.2023.9812
Case Report
Klinefelter syndrome and cutaneous localization of diffuse large B cell lymphoma: a real connection or a casual association?
Scarfì Federica 1 2
Magnaterra Elisabetta 1 2
Santini Simone 3
Taviti Franca 1
Contributions: the authors contributed equally. 1 Dermatology Unit, Toscana Centro Local Health Unit, Prato Hospital
2 Section of Dermatology, Department of Health Sciences, University of Florence
3 Hematology and Oncohematology Unit, Toscana Centro Local Health Unit, Prato Hospital, Italy
Dermatology, UOSD Dermatologia, USL Toscana Centro-Prato Hospital, Piazza Ospedale, 5, 59100 Prato, Italy. scarfif@gmail.com.
Conflict of interest: the authors declare no potential conflict of interest.

Consent for publication: the patient gave his consent for the publication of this case report.

Ethical approval and consent to participate: all the procedures in the present study wereperformed in accordance with the principles of the Helsinki's Declaration.

Publisher's note: all claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

29 8 2023
02 9 2024
16 3 981229 7 2023
23 8 2023
Copyright © 2024, the Author(s)
2024
Licensee PAGEPress, Italy
https://creativecommons.org/licenses/by-nc/4.0/ This work is licensed under a Creative Commons Attribution NonCommercial 4.0 License (CC BY-NC 4.0).
Diffuse large B cell lymphoma (DLBCL) is a common aggressive subtype of non-Hodgkin lymphoma, accounting for nearly 30-40% of all cases. This condition can affect the skin both primarily and secondarily. Herein we report a clinical and dermoscopic case of skin metastasis of DLBCL in a patient with Klinefelter Syndrome.

Key words

Klinefelter syndrome
lymphomas' skin metastases
genetic
Funding: none.
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pmcCase Report

A 54-year-old man was consulted in January 2022 for the presence of a painless, rapidly enlarging nodule on his right axilla cavity. Clinical examination revealed a well-circumscribed, red, polypoid nodule measuring about 7×5 mm (Figure 1). The dermoscopic examination showed linear and branching vessels distributed throughout the nodule on a pink background with multiple white structureless areas (Figure 2).

His past medical history was remarkable for Klinefelter syndrome (KS) currently on testosterone replacement therapy. Furthermore, the patient had been diagnosed with DLBCL in April 2020 with multifocal bone, pleural, splenic, and lymph node metastases at the time of the diagnosis (Ann Arbor stage IVA). However, at the end of August 2020, after receiving six courses of chemotherapy with R-CHOP (cyclophosphamide, adriamycin, vincristine and prednisone plus local radiation), the patient finally achieved complete remission according to the interim response evaluation by PET-CT. The lesion was excised and sent for histopathological examination. Microscopic examination showed massive infiltration of atypical lymphoid B-cells. Immunohistochemical staining demonstrated CD-20 (+), CD-10 (+/-), bcl-6 (+), bcl-2 (+), CD-5 (-), CD-3 (-), CD-23(-), c-myc (-), consistent with the diagnosis of DLBCL skin metastasis. The fraction of Ki-67-positive lymphoid cells was 80%.

Discussion

Diffuse large B cell lymphoma (DLBCL) is a frequent aggressive subtype of non-Hodgkin lymphoma (NHL), representing nearly 30-40% of all cases.1,2 KS is a common constitutional chromosomal disorder and the most common genetic cause of human male infertility,3 with an estimated prevalence of 1 in 650 males.4

In almost 80-90% of KS cases, the defining karyotype is 47,XXY, while the remaining 10-20% have higher-grade chromosome aneuploidies, various grades of mosaicism or structurally abnormal X chromosomes.4 According to some recent reports, individuals with KS would have a higher risk of developing specific types of neoplasms such as germ cells tumor and breast cancer, while the overall cancer risk appears to be the same for the general male population.5,6 Little has been written about hematological malignancies in patients affected by KS. An increased risk of NHL has been described in KS patients.7,8 However, the underlying mechanisms linking these two conditions are yet to be clarified. A possible explanation lies in the higher frequency of gene fusion and/or translocation during cell division in people with chromosome aneuploidies. In particular, the increased number of chromosomes in cells may lead to the formation of chromosomal rearrangements and oncogenes activations, as already hypothesized in patients with Down’s syndrome.9

Figure 1. Clinical image of the rapid enlarging red, polypoid nodule measuring about 75 mm located in the right axilla cavity.

Figure 2. Dermoscopic image of the nodule shows linear and branching vessels distributed throughout the nodule on a pink background and white structureless areas.

Conclusions

As far as we know, this is the first reported case of skin metastasis of DLBCL in a patient with Klinefelter Syndrome. Furthermore, our case highlights some dermoscopic findings that may address the clinical identification of DLBCL skin metastasis. Except for mycosis fungoides, limited data about dermoscopy of cutaneous lymphomas are available and essentially none about skin metastases. Two recent articles pointed out that unfocused linear vessels with branches and focal white and orange structureless areas are frequent findings in the case of primitive cutaneous lymphoma (either B-cell or T-cell).10,11 All these features, excluding orange areas, were also observable in our case.

Obviously, a certain diagnosis of skin metastasis of DLBCL can only be achieved by performing a biopsy and histological examination. However, we believe that clarifying the connection between KS and DLBCL could facilitate early diagnosis and expedite the starting of therapies.

Availability of data and material

Data are available from the authors upon reasonable request.
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