Dermatofibrosarcoma protuberans

Dermatofibrosarcoma protuberans (DFSP) is a rare low-grade sarcoma of the fibroblast originating from the dermal layer of the skin, characterized by a locally aggressive growth and high rate of local recurrence.

Mutations in PDGFB are associated with meningioma. Reciprocal translocations between chromosome 22 and chromosome 17, at sites where this gene and that for COL1A1 are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans resulting from unregulated expression of growth factor. Two splice variants have been identified for this gene.

A successful treatment and management depends on achieving local control and preventing cosmetic and functional deficit; all efforts should be made for complete excision. Postoperative follow-up recommended for highly suspicious cases and annual checkups should be performed up to 5 years after definitive therapy ¹⁾

Two patients underwent a wide radical excision of recurrent scalp DFSP which was reconstructed with translational skin flap and split-thickness skin graft. We described above cases several years ago with a local excision of the tumor; recently, they developed local recurrence of DFSP with calvarial involvement. We then performed a wide radical excision, with craniectomy of the cranial defect followed by cranioplasty using titanium mesh, continuing with reconstruction.

A successful treatment and management depends on achieving local control and preventing cosmetic and functional deficit; all efforts should be made for complete excision. Postoperative follow-up recommended for highly suspicious cases and annual checkups should be performed up to 5 years after definitive therapy ²⁾

2: Carloni R, Herlin C, Chaput B, De Runz A, Watier E, Bertheuil N. Scalp Tissue Expansion Above a Custom-Made Hydroxyapatite Cranial Implant to Correct Sequelar Alopecia on a Transposition Flap. World Neurosurg. 2016 Nov;95:616.e1-616.e5. doi: 10.1016/j.wneu.2016.08.116. Epub 2016 Sep 5. PubMed PMID: 27609453.

3: Bashir S, Tariq M, Aslam HM, Hashmi AS, Malik B, Amin A, Mumtaz S. Orbital dermatofibrosarcoma protuberans with intracranial extension preceded by recurrent leiomyoma of the orbit: a case report. J Med Case Rep. 2015 Apr 29;9:96. doi: 10.1186/s13256-015-0561-4. PubMed PMID: 25924890; PubMed Central PMCID: PMC4423146.

4: Liansheng L, Xialiang L, Yaodong Z, Yajun X, Meiqing L. Report of two cases of recurrent scalp dermatofibrosarcoma protuberans and literature review. Indian J Dermatol. 2014 Nov;59(6):602-5. doi: 10.4103/0019-5154.143536. PubMed PMID: 25484394; PubMed Central PMCID: PMC4248501.

5: Hourani R, Taslakian B, Shabb NS, Nassar L, Hourani MH, Moukarbel R, Sabri A, Rizk T. Fibroblastic and myofibroblastic tumors of the head and neck: comprehensive imaging-based review with pathologic correlation. Eur J Radiol. 2015 Feb;84(2):250-60. doi: 10.1016/j.ejrad.2014.10.017. Epub 2014 Nov 1. Review. PubMed PMID: 25467227.

6: Akhaddar A, Lakouichmi M. Darier Ferrand dermatofibrosarcoma of the scalp with frontal intracranial extension. Pan Afr Med J. 2014 Jul 30;18:264. doi: 10.11604/pamj.2014.18.264.4023. eCollection 2014. PubMed PMID: 25426211; PubMed Central PMCID: PMC4242117.

7: Arifin MZ, Yudoyono F, Dahlan RH, Hernowo BS, Sutiono AB, Faried A. A rare giant scalp dermatofibrosarcoma protuberans. Surg Neurol Int. 2014 Apr 1;5:45. doi: 10.4103/2152-7806.129909. eCollection 2014. PubMed PMID: 24818052; PubMed Central PMCID: PMC4014828.

8: Kim JD, Lee HW. Hibernoma: Intense Uptake on F18-FDG PET/CT. Nucl Med Mol Imaging. 2012 Sep;46(3):218-22. doi: 10.1007/s13139-012-0150-z. Epub 2012 Jun 27. PubMed PMID: 24900064; PubMed Central PMCID: PMC4043036.

9: Hidaka T, Fujimura T, Hashimoto A, Aiba S. Successful treatment of pigmented dermatofibrosarcoma protuberance on the nasal root with cyberknife radiosurgery. Acta Derm Venereol. 2012 Nov;92(6):658-9. doi: 10.2340/00015555-1357. PubMed PMID: 22504888.

10: Mattox AK, Mehta AI, Grossi PM, Cummings TJ, Adamson DC. Response of malignant scalp dermatofibrosarcoma to presurgical targeted growth factor inhibition. J Neurosurg. 2010 May;112(5):965-77. doi: 10.3171/2009.7.JNS09522. PubMed PMID: 19681684.

11: Abe T, Kamida T, Goda M, Inoue R, Fujiki M, Kobayashi H, Hatano Y, Shibuya H, Fujiwara S, Terashi H, Mori T. Intracranial infiltration by recurrent scalp dermatofibrosarcoma protuberans. J Clin Neurosci. 2009 Oct;16(10):1358-60. doi: 10.1016/j.jocn.2008.07.088. Epub 2009 Jun 27. PubMed PMID: 19560926.

12: Marakovic J, Vilendecic M, Marinovic T, Lambasa S, Grahovac G. Intracranial recurrence and distant metastasis of scalp dermatofibrosarcoma protuberans. J Neurooncol. 2008 Jul;88(3):305-8. doi: 10.1007/s11060-008-9567-8. Epub 2008 Mar 15. PubMed PMID: 18345515.

13: Kim SD, Park JY, Choi WS, Kim SH, Lim DJ, Chung HS. Intracranial recurrence of the scalp dermatofibrosarcoma. Clin Neurol Neurosurg. 2007 Feb;109(2):172-5. Epub 2006 Jun 6. PubMed PMID: 16757109.

14: Kashima A, Yamashita A, Moriguchi S, Marutsuka K, Tsumori S, Yoshizato K, Ishihara A, Setoyama M, Asada Y. Detection of COL1A1-PDGFB fusion transcripts and platelet-derived growth factor alpha and beta receptors in giant cell fibroblastoma of the postsacrococcygeal region. Br J Dermatol. 2006 May;154(5):983-7. PubMed PMID: 16634907.

15: Nestor SL, Perry A, Kurtkaya O, Abell-Aleff P, Rosemblat AM, Burger PC, Scheithauer BW. Melanocytic colonization of a meningothelial meningioma: histopathological and ultrastructural findings with immunohistochemical and genetic correlation: case report. Neurosurgery. 2003 Jul;53(1):211-4; discussion 214-5. PubMed PMID: 12823892.

16: Sinha VD, Dharker SR, Kalra GS. Dermatofibrosarcoma protuberans of scalp : a case report. Neurol India. 2001 Mar;49(1):81-3. PubMed PMID: 11303249.

17: Das L, Grover SB, Chand K, Dawson L. Intracranial extension of a dermatofibrosarcoma protuberans of the scalp: a case report with brief review of literature. Surg Neurol. 2000 Dec;54(6):452-4. Review. PubMed PMID: 11240177.