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Home Oncology Congenital Dermatofibrosarcoma Presenting as an Atrophic Plaque


CONGENITAL DERMATOFIBROSARCOMA PRESENTING AS AN ATROPHIC PLAQUE

29 Oct 2024
3 Mins
Oncology
Download PDF
Authors:
*Jenna Koblinski,1 Katarina Lequeux Nalovic2
 * 1. Department of Dermatology, Emory University, Atlanta, Georgia, USA
 * 2. Atlanta Skin Cancer Specialists, Georgia, USA

*Correspondence to jennakoblinski@gmail.com
Disclosure:

The authors disclose no conflicts of interest. The patient and the patient’s
guardian consented to her case being shared.

Received: 10.06.24 Accepted: 23.09.24 Citation:
EMJ Oncol. 2024;12[1]:148-152. https://doi.org/10.33590/emjoncol/HYKZ6524.
Keywords:
Congenital dermatofibrosarcoma protuberans, dermatofibrosarcoma protuberans
(DFSP), paediatric.

Each article is made available under the terms of the Creative Commons
Attribution-Non Commercial 4.0 License.


ABSTRACT

Dermatofibrosarcoma protuberans (DFSP) is a rare sarcoma that most commonly
occurs on the trunk of adult patients. However, DFSP can present congenitally,
and this rarity may lead to misdiagnosis or late diagnosis. The authors present
a case of a congenital DFSP that was not diagnosed until the patient was 17
years old. Her tumour was successfully treated with Mohs micrographic surgery.
It is important to have DFSP on the differential for atrophic plaques or
violaceous to red-brown nodules, even at a young age.


KEY POINTS

1. Dermatofibrosarcoma protuberans (DFSP) can present congenitally, though their
rarity may lead to misdiagnosis or late diagnosis. It is important to have DFSP
on the differential for atrophic plaques or violaceous to red-brown nodules,
even at a young age.
2. Mohs micrographic surgery is a well-described treatment modality for DFSP
that can be used for all ages.
3. It is important to evaluate DFSP for fibrosarcomatous change as these tumours
are more aggressive.


INTRODUCTION

Dermatofibrosarcoma protuberans (DFSP) is a rare, locally aggressive sarcoma
that most commonly occurs on the trunk of patients.1,2 The lesion typically
presents as either an indurated plaque or red-brown nodules.1 DFSP occurs most
often in adults during the third to fifth decades of life; however, there are
reports of DFSP in childhood and even fewer reports of congenital DFSP.2-4 The
authors present a case of congenital DFSP that had a delayed diagnosis and
subsequent treatment with Mohs micrographic surgery (MMS).


CASE

An otherwise healthy 17-year-old female presented for evaluation of a congenital
plaque on her chest. Her mother noted the plaque had been present since birth
and had grown with the patient. The patient reported this previously
asymptomatic lesion had recently become sore, leading her to seek evaluation.
There was no family history of immunosuppression. On examination, there was a
freely movable red-brown atrophic plaque 3.1×2.4 cm on the right chest (Figure
1). The remainder of her examination was unremarkable. Given the unusual
congenital plaque with the new-onset of symptoms, shared decision-making was
utilised to perform a punch biopsy of this lesion. The differential at this time
included atrophoderma, DFSP, and medallion-like dermal dendrocyte hamartoma. The
results of this biopsy demonstrated a cellular dermal and subcutaneous spindle
cell proliferation (Figure 2). On staining, there was strong positivity for the
CD34 antigen (Figure 3). A fluorescence in situ hybridisation (FISH) analysis
was performed, which detected a platelet-derived growth factor beta (PDGFB) gene
rearrangement. These constellations of findings were consistent with a diagnosis
of DFSP, and MMS was elected for treatment.

Figure 1:  Red-brown atrophic plaque over the right chest.

Figure 2:  Haematoxylin and eosin at 4x demonstrates a dense spindle cell
neoplasm infiltrating dermis and subcutis.

Figure 3:  Immunohistochemistry for CD34 at 4x is diffusely positive in the
spindle cell neoplasm.

On the day of the procedure, the patient continued to report pain from the
lesion. On exam, there was a 3.1×2.4 cm atrophic plaque on the right chest with
retained sutures from the punch biopsy. There was no lymphadenopathy. MMS
required three stages to clear the tumour, and the site was closed with a
complex primary closure. The patient has since been healing well without
complications.


DISCUSSION

DFSP is a rare sarcomatous malignancy that has an overall estimated incidence of
0.8 per million persons per year.2-4 Previous reports demonstrate that children
less than 16 years old account for approximately 6% of total DFSP cases, with
congenital cases being even scarcer.4 The authors’ report highlights another
rare case of congenital DFSP and a striking delay of diagnosis until the age of
17. A review of the literature on congenital DFSP from 2009 found that the most
common presentation of congenital DFSP are nodular plaques of varying colours,
but they noted that its presentation can be variable.3 This variation was
demonstrated by the authors’ patient presenting with an atrophic plaque
initially thought to be atrophoderma given its appearance. It is important for
clinicians to recognise that congenital DFSP can occur and have differing
features.3 There should be a low threshold to biopsy suspicious congenital
lesions, as delay in diagnosis or misdiagnosis may lead to the continued growth
of the malignancy and initiation of symptoms (as with this patient), as well as
the potential for inappropriate treatments for incorrectly suspected benign
congenital lesions; these impacts of delayed diagnosis may also complicate later
definitive surgical treatment for a DFSP.3

On histopathology, DFSPs are composed of spindle cells with scant cytoplasm and
little pleomorphism, and they are often CD34 positive.2 They are arranged in a
storiform configuration and extend into the subcutaneous fat in a ‘honeycomb’
pattern.5 The aetiology of both acquired and congenital DFSP is unknown;
however, many DFSPs also demonstrate a chromosomal translocation between
chromosomes 17 and 22, which may be a pathogenic factor.2,3 This rearrangement
leads to the fusion of PDGFB and collagen type 1A1 genes (COL1A1).2,3 This
rearrangement in the authors’ patient could be evaluated by utilising
fluorescence in situ hybridisation analysis.2 In the aforementioned review, they
found that of 13 congenital DFSP cases tested for a PDGFB translocation, nine
were positive (69%).3 The authors’ case illustrates another example of
congenital DFSP having PDGFB translocation positivity and exhibits the
importance of performing this analysis if there is diagnostic uncertainty in
order to potentially support a diagnosis of DFSP.

Further, when evaluating DFSP histopathologically, it is important to evaluate
the tumour for fibrosarcomatous (FS) change. FS under the microscope will
demonstrate high-grade features including cellular atypia, increased mitoses,
and a ‘herring-bone’ or fascicular growth pattern.5 It is important to evaluate
for FS change of DFSP as these tumours are more aggressive with lower
recurrence-free survival and increased potential for metastasis.5 The authors’
patient had no evidence of FS change on initial biopsies or final MMS procedure.

MMS is the preferred treatment modality for DFSP of all ages given lower
recurrence rates, greater amounts of tissue sparing, and less overall number of
surgeries.2-4 DFSP often have an unpredictable subclinical extension, and MMS
provides real-time direct visualisation of the tumour over wide local excision.
This is exemplified by the authors’ patient requiring three stages of MMS for
clearance. In the 2009 review, they found that for congenital DFSP treated with
MMS, the clearance rate was 100% (average follow-up: 4.3 years), and for the
tumours treated with wide local excision, the clearance rate was 89% (average
follow-up: 1.9 years).3 They also found that excised margins were smaller with
MMS over wide local excision.3 The authors’ adolescent patient was able to have
tumour clearance with the greatest amount of tissue sparing in a sensitive site,
demonstrating the benefit of MMS in these cases.


CONCLUSION

DFSP can present congenitally, though their rarity may lead to misdiagnosis or
late diagnosis. It is important to have DFSP on the differential for atrophic
plaques or violaceous to red-brown nodules, even at a young age. Biopsy and
subsequent histopathological testing are key in the diagnosis of DFSP. MMS is
the preferred treatment of choice for congenital DFSP given higher clearance
rates and smaller excised margins.

References
Bolognia J et al. Dermatology (2018) 4th edition, Philadelphia: Elsevier. Gopal
M et al. Dermatofibrosarcoma Protuberans [Internet] (2023) Treasure Island:
StatPearls. Available at: https://www.ncbi.nlm.nih.gov/books/NBK513305/. Last
accessed: 6 June 2024. Love WE et al. Surgical management of congenital
dermatofibrosarcoma protuberans. J Am Acad Dermatol. 2009;61(6):1014-23. Blaser
JL et al. Using the “feed and wrap” technique and mohs surgery to eradicate
congenital dermatofibrosarcoma protuberans in a 4‐month‐old. Derm Surg.
2011;37(6):862-6. Hoesly PM et al. Prognostic impact of fibrosarcomatous
transformation in dermatofibrosarcoma protuberans: a cohort study. J Am Acad
Dermatol. 2015;72(3):419-25.
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