10.5826/dpc.1302a124
text/xml
2160-9381
2811
en
Murat Orhan Öztaş
https://creativecommons.org/licenses/by-nc/4.0
Dermatology Practical & Conceptual
xanthoma disseminatum
A Case of Xanthoma Disseminatum in a Progressive Form With Bladder Involvement Effectively Treated With 2-Chlorodeoxyadenosine
Text.Serial.Journal
https://dpcj.org/index.php/dpc
Research Letter
2023-04-29
2022-09-05
2023-04-29
2023-06-05
e2023124
Dermatol Pract Concept
Murat Orhan Öztaş
2023/04/29
10.5826/dpc.1302a124
e2023124
Department of Dermatology, Faculty of Medicine, Gazi University, Ankara, Turkey
2160-9381
xanthoma disseminatum
en
e2023124
Adışen E, Aladağ P, Özlem E, Gürer M. Cladribine is a promising therapy for xanthoma disseminatum. Clin Exp Dermatol. 2017;42(6):717-719. DOI: 10.1111/ced.13116. PMID: 28544144.
A Case of Xanthoma Disseminatum in a Progressive Form With Bladder Involvement Effectively Treated With 2-Chlorodeoxyadenosine
https://dpcj.org/index.php/dpc/article/download/2811/2082
A Case of Xanthoma Disseminatum in a Progressive
Form With Bladder Involvement Effectively Treated
          With 2-Chlorodeoxyadenosine
         Elçin Akdaş1, Burcu Beksaç2, Esra Adışen1, Özlem Erdem3, Murat Orhan Öztaş1


1 Department of Dermatology, Faculty of Medicine, Gazi University, Ankara, Turkey
2 Department of Dermatovenereology, University of Health Sciences, Gulhane Research and Training Hospital, Ankara, Turkey
3 Department of Pathology, Faculty of Medicine, Gazi University, Ankara, Turkey



Key words: xanthoma disseminatum, bladder, 2-chlorodeoxyadenosine, cladribine
Citation: Akdaş E, Beksaç E, Adışen E, Erdem Ö, Öztaş MO. A Case of Xanthoma Disseminatum in a Progressive Form
With Bladder Involvement Effectively Treated With 2-Chlorodeoxyadenosine. Dermatol Pract Concept. 2023;13(2):e2023124.
DOI: https://doi.org/10.5826/dpc.1302a124
Accepted: November 14, 2022; Published: April 2023
Copyright: ©2023 Akdaş 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: Elçin Akdaş, Department of Dermatology, Gazi Medical University, Yenimahalle TR–06500, Ankara, Turkey.
Tel: +905469757697 E-mail: mdelcinakdas@gmail.com




Introduction                                                             normal except for moderate leukocytosis and a slightly el-
                                                                         evated erythrocyte sedimentation rate. Electrocardiography
Xanthoma disseminatum (XD) is a rare non-Langerhans cell                 and chest X-ray were also normal.
histiocytosis that is difficult to treat [1]. In rare progressive             Histopathologic examination revealed diffuse dermal in-
forms of the disease, organ dysfunctions may occur [2]. We               filtration by histiocytic cells, foamy cells, and Touton-type
report a case of XD with bladder involvement, with an ex-                giant cells. Immunohistochemical studies showed positive
cellent response to 2-chlorodeoxyadenosine.                              staining for CD68, factor XIIIa, and fascin, and negative
                                                                         staining for S100 (Figure 2, A-C). The patient was diagnosed

Case Presentation                                                        with XD based on clinicopathological and immunohisto-
                                                                         chemical findings.
A 47-year-old male patient presented with a 5-year history                    Abdominal ultrasound examination for possible systemic
of numerous skin lesions on the oral mucosa, head, neck,                 involvement revealed grade 2 hydronephrosis in the right
trunk, and upper limbs (Figure 1, A and C). His personal                 kidney and an irregular 18 mm echogenic mass behind the
and family history was unremarkable. He denied any sys-                  bladder that prevented the opening of the right ureter. The
temic symptoms. Dermatological examination demonstrated                  mass in the bladder was also confirmed by an abdominopel-
numerous symmetrical yellow to brown papules and nod-                    vic CT scan. Magnetic resonance imaging of the brain did
ules that enlarged into plaques and tumoral lesions, espe-               not find any abnormality and serum protein electrophoresis
cially in the intertriginous areas. Laboratory tests were                did not show any M band.




Research Letter | Dermatol Pract Concept. 2023;13(2):e2023124                                                                       1
Figure 1. The appearance of lesions before (A,C) and after (B,D) treatment with 2-chlorodeoxyadenosine.



    Histopathological and immunohistochemical findings of
                                                                     Conclusions
the specimen obtained through transurethral resection of the
bladder were also consistent with XD (Figure 2, D and E).            Xanthoma disseminatum is characterized by erythematous,
    We initiated 2-chlorodeoxyadenosine (cladribine) 0.14 mg/​       reddish-brown papules, plaques, and nodules that are typi-
kg/d for five consecutive days, repeated monthly. The treat-         cally symmetrical and tend to coalesce in intertriginous areas
ment was well tolerated, and no serious side effects devel-          [1,2]. Histopathologic findings include diffuse dermal infil-
oped. After three cycles of treatment, improvement in skin           tration by histiocytes and Touton giant cells. Immunohisto-
lesions was remarkably evident, with more flattening and             chemical evaluation shows histiocytes staining positive with
fading, although a complete resolution was not achieved              CD68, CD163, factor XIIIa, and fascin, and negative with
(Figure 1, B and D). Also, the tumoral lesion in the bladder         S-100 and CD1a (Langerin) [3 4].
and hydronephrosis also completely regressed in the control              Although XD is generally considered a benign disease,
CT scan. No new lesions developed during our follow-up of            in extremely rare progressive forms, mechanical mucosal
48 months.                                                           complications and progressive organ dysfunction can cause


2                                                                         Research Letter | Dermatol Pract Concept. 2023;13(2):e2023124
Figure 2. Histopathological appearance of skin and bladder biopsy specimens showing intense dermal infiltration of histiocytes and foamy
cells (A and D, respectively) with Tauton giant cells (D, yellow arrow). H&E original magnifications ([(A] × 40; [D] × 100). Immunohisto-
chemical examination, the cells in the skin and bladder stained positive for CD68 (B and D, respectively) and negative for CD1a (C and E,
respectively). Original magnification x40 for B,C,E and F.




significant morbidity and mortality [2]. Many treatments               2. Caputo R, Veraldi S, Grimalt R, et al. The various clinical patterns
including steroids, azathioprine, cyclophosphamide, elec-                 of xanthoma disseminatum. Dermatology. 1995;190(1):19-24.
                                                                          DOI: 10.1159/000246628. PMID: 7894090.
trocoagulation, or surgical excision, have been tried in XD,
                                                                       3. Zelger B, Cerio R, Orchard G, Fritsch P, Wilson-Jones E. His-
but recently the most satisfactory results have been obtained
                                                                          tologic and immunohistochemical study comparing xan-
with 2-chlorodeoxyadenosine [5,6].                                        thoma disseminatum and histiocytosis X. Arch Dermatol.
   The excellent response to 2-chlorodeoxyadenosine was                   1992;128(9):1207-1212. PMID: 1519935.
remarkable in this case with the progressive form of XD with           4. Weitzman S, Jaffe R. Uncommon histiocytic disorders:
bladder involvement. We emphasize the need for appropriate                the non-Langerhans cell histiocytoses. Pediatr Blood Can-
                                                                          cer. 2005;45(3):256-264. DOI: 10.1002/pbc.20246. PMID:
treatment with careful evaluation of the disease and close fol-
                                                                          15547923.
low-up to prevent significant morbidity in progressive disease.
                                                                       5. Khezri F, Gibson LE, Tefferi A. Xanthoma disseminatum: effec-
                                                                          tive therapy with 2-chlorodeoxyadenosine in a case series. Arch
Acknowledgements: The patient in this manuscript has given                Dermatol. 2011;147(4):459-464. DOI: 10.1001/archderma-
written informed consent to the publication of his case details.          tol.2010.378. PMID: 21173305.
                                                                       6. Adışen E, Aladağ P, Özlem E, Gürer M. Cladribine is a prom-

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                                                                          tol. 2017;42(6):717-719. DOI: 10.1111/ced.13116. PMID:
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Research Letter | Dermatol Pract Concept. 2023;13(2):e2023124                                                                              3
