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Multiple Atrophic Papules and Plaques on the Trunk and Extremities of a Young Man

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

A young man in his late teens presented with numerous atrophic papules and plaques on his trunk and extremities that developed gradually over several years. Although most were asymptomatic, the patient was concerned about the ongoing appearance of new lesions and the associated pain that some lesions were causing. His medical history was significant for adenosine deaminase–deficient severe combined immunodeficiency (ADA-SCID), which had been managed since childhood with twice weekly intramuscular injections of pegademase bovine enzyme replacement, thrice weekly trimethoprim-sulfamethoxazole for Pneumocystis prophylaxis, and monthly infusions of intravenous immunoglobulin. Physical examination revealed 9 smooth-surfaced, skin-colored to hyperpigmented, 0.5- to 1.5-cm atrophic papules and plaques that exhibited the buttonhole sign on palpation (Figure, A). The multicentric lesions were located on the left knee, left thigh, bilateral chest, and back. Punch biopsies of lesions on his trunk and extremities were sent for histopathological examination with hematoxylin-eosin (H&E) staining (Figure, B and C), immunohistochemical (IHC) studies, and molecular evaluation with reverse transcription polymerase chain reaction.

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C. Dermatofibrosarcoma protuberans, atrophic variant

Histopathological examination with H&E revealed a hypercellular proliferation of spindle-shaped fibroblastic cells occupying the reticular dermis and infiltrating the subcutis (Figure, B and C). The elongated, wavy nuclei were mildly hyperchromatic but otherwise bland, and mitotic figures were uncommon. Immunohistochemistry showed strong, diffuse positivity for CD34 and vimentin, whereas factor XIIIa and S100 were negative. Reverse transcription polymerase chain reaction confirmed the presence of a COL1A1-PDGFβ fusion transcript. These features were consistent with dermatofibrosarcoma protuberans (DFSP), specifically the variant known as atrophic DFSP.

Dermatofibrosarcoma protuberans is a rare malignant mesenchymal tumor of the dermis and subcutis found most commonly on the trunk and proximal extremities. Its incidence is up to 4.5 cases per million population per year,1 but it is rarer among children. Autosomal recessive ADA-SCID (OMIM 102700) is a genetic disorder of humoral and cellular immunity. In 2011, Kesserwan et al2 first described an association between ADA-SCID and DFSP, highlighting the latter’s unique features of multicentricity, early age at onset, and tendency to manifest as small atrophic plaques. The mechanism underlying the development of multiple atrophic DFSP lesions in patients with ADA-SCID has not been fully elucidated. The natural history of DFSP in this setting is unknown because until recently, few patients with ADA-SCID survived into adulthood.2

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Article Information

Corresponding Author: Scott A. Norton, MD, MPH, Division of Dermatology, Children’s National Health System, 111 Michigan Ave, Ste 3W-617, Washington, DC 20010 (snorton@cnmc.org).

Published Online: August 7, 2019. doi:10.1001/jamadermatol.2019.2239

Conflict of Interest Disclosures: None reported.

Additional Contributions: We thank the patient for granting permission to publish this information, Edward W. Cowen, MD, MHSc (Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD), for critical review of this article, and Wen Chen, MD (Department of Dermatology, Washington, DC Veterans Affairs Medical Center), who took photomicrographs of the histopathology slides. None of the named individuals received compensation for their contributions.

References
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Rouhani  P, Fletcher  CD, Devesa  SS, Toro  JR.  Cutaneous soft tissue sarcoma incidence patterns in the U.S.: an analysis of 12,114 cases.  Cancer. 2008;113(3):616-627. doi:10.1002/cncr.23571PubMedGoogle ScholarCrossref
2.
Kesserwan  C, Sokolic  R, Cowen  EW,  et al.  Multicentric dermatofibrosarcoma protuberans in patients with adenosine deaminase-deficient severe combined immune deficiency.  J Allergy Clin Immunol. 2012;129(3):762-769.e1. doi:10.1016/j.jaci.2011.10.028PubMedGoogle ScholarCrossref
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Kornik  RI, Muchard  LK, Teng  JM.  Dermatofibrosarcoma protuberans in children: an update on the diagnosis and treatment.  Pediatr Dermatol. 2012;29(6):707-713. doi:10.1111/j.1525-1470.2012.01767.xPubMedGoogle ScholarCrossref
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Buteau  AH, Keeling  BH, Diaz  LZ,  et al.  Dermatofibrosarcoma protuberans in pediatric patients: a diagnostic and management challenge.  JAAD Case Rep. 2018;4(2):155-158. doi:10.1016/j.jdcr.2017.09.022PubMedGoogle ScholarCrossref
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National Comprehensive Cancer Network: NCCN clinical practice guidelines in oncology. dermatofibrosarcoma protuberans, version 1.2019. https://www.nccn.org/professionals/physician_gls/pdf/dfsp.pdf. Accessed January 12, 2019.
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Llombart  B, Serra-Guillén  C, Monteagudo  C, López Guerrero  JA, Sanmartín  O.  Dermatofibrosarcoma protuberans: a comprehensive review and update on diagnosis and management.  Semin Diagn Pathol. 2013;30(1):13-28. doi:10.1053/j.semdp.2012.01.002PubMedGoogle ScholarCrossref
7.
Patel  KU, Szabo  SS, Hernandez  VS,  et al.  Dermatofibrosarcoma protuberans COL1A1-PDGFB fusion is identified in virtually all dermatofibrosarcoma protuberans cases when investigated by newly developed multiplex reverse transcription polymerase chain reaction and fluorescence in situ hybridization assays.  Hum Pathol. 2008;39(2):184-193. doi:10.1016/j.humpath.2007.06.009PubMedGoogle ScholarCrossref
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Mutgi  KAJ, Chitgopeker  P, Ciliberto  H, Stone  MS.  Hypocellular plaque-like CD34-positive dermal fibroma (medallion-like dermal dendrocyte hamartoma) presenting as a skin-colored dermal nodule.  Pediatr Dermatol. 2016;33(1):e16-e19. doi:10.1111/pde.12726PubMedGoogle ScholarCrossref
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