Melanotic Macule in Conjunction with a Giant Cell Fibroma.

INTRODUCTION: The aim of this study is to describe a case of a melanotic macule found in conjunction with a giant cell fibroma (GCF). For oral pigmented lesions without an identifiable etiologic factor, critical factors in determining the differential diagnosis are clinical history, symmetry, and uniformity of the lesions. Potential differential diagnosis includes racial pigmentation, endocrine disturbance, Peutz-Jeghers syndrome, trauma, hemochromatosis, oral malignant melanoma, or idiopathic etiology and melanotic macules. Melanotic macules are the most common solitary pigmented melanocytic lesions in the oral mucosa, corresponding to 86.1% of melanocytic lesions of the mouth. Giant cell fibromas are reactive connective tissue lesions in the oral cavity. They were first described as a distinct entity in 1974 by Weathers and Callihan and make up around 5 to 10% of all oral mucosa fibrous lesions. They are commonly mistaken for other growths, such as pyogenic granuloma and fibroma, and diagnosis is accurately based on its distinctive histopathology. This article presents the clinicopathologic findings of a 15-year-old Hispanic male presenting for biopsy of a melanotic macule on the mandibular anterior buccal gingiva. Histologic evaluation of the specimen revealed that the lesion also contained a GCF. Pathologic lesions of the mouth should be carefully diagnosed. Conventionally, histologic evaluation is the gold standard to produce a final diagnosis. As evidenced in this article, multiple lesions may exist in a site and may be mistakenly diagnosed as a single entity. CLINICAL SIGNIFICANCE: While each lesion has been reported individually, in reviewing the literature, no cases were reported in which both histopathologic findings of GCF and melanotic macule were present within the same lesion.

Dermatofibrosarcoma Protuberans in a Patient With Cowden Syndrome: Revisiting the PTEN and PDGF Pathways.

PTEN hamartoma tumor syndrome, of which Cowden syndrome (CS) is the most recognized variant, is characterized by multiple benign and malignant tumors of ectodermal, mesodermal, and endodermal origins, secondary to germline mutation in the phosphatase and tensin homolog (PTEN) gene. Dermatofibrosarcoma protuberans (DFSP) is a locally aggressive malignant fibroblastic/myofibroblastic tumor of the skin, characterized by the t(17:22)(q22:q13) translocation resulting in fusion of the COL1A1 and PDGFB genes. An association between CS and DFSP has not been reported in the literature to date. The authors have encountered a male patient with CS and a history of DFSP that developed adjacent to a sclerotic fibroma on the parietal scalp, both excised at age 7. He presented at age 21 with an enlarging pink nodule at the same site on the parietal scalp. Excision revealed a dermal and subcutaneous storiform spindle cell proliferation with fat entrapment and positive staining for CD34, consistent with DFSP. Fluorescence in situ hybridization confirmed PDGFB gene rearrangement. PTEN expression in the patient's recurrent DFSP was nearly absent when compared with that of sporadic DFSP. To our knowledge, this is the first report of DFSP in a patient with CS. Although the association is likely to be coincidental, the authors revisited the PTEN and the PDGF pathways to speculate any possible interplay of the 2 conditions on a molecular level.

Giant Hemosiderotic Dermatofibroma: The Largest Giant Dermatofibroma Reported to Date.

Dermatofibroma (DF) is a relatively common benign fibrohistiocytic soft tissue tumor. It has a slightly greater incidence amongst females and typically presents itself during the midadult life as a slowly growing, firm dermal nodule, usually smaller than 2 cm in diameter, on the lower extremities. Giant DF is a rare clinical variant of DF characterized by unusually large size (>5 cm), which mimics malignant soft tissue tumor clinically. Twenty-six cases of giant DF have been reported so far. One of these giant DFs was a giant hemosiderotic DF. We report herein a case of a 47-year-old woman who presented with the largest DF reported in the literature to date. It was hemosiderotic.

Unusual presentation of dermatofibrosarcoma protuberans in a male patient's breast: a case report and review of the literature.

We herein present a case report and literature review of dermatofibrosarcoma protuberans in the breast of a male patient. A 27-year-old man presented with a painless lump in his right breast with areas of bluish skin discoloration. The diagnostic work-up comprised clinical examination, ultrasonography, core biopsy, mammography, and magnetic resonance imaging. After surgical excision, the preoperative diagnosis of dermatofibrosarcoma protuberans was proven by pathological examination and immunohistochemistry. The patient was still free of recurrence 1 year after surgical excision. This extremely rare case is, to the best of our knowledge, the fifth such case reported in the literature.

Metastatic presentation of dermatofibrosarcoma protuberans as massive lower gastrointestinal bleed.

Dermatofibrosarcoma protuberans (DFSP) is an aggressive tumour with multiple local recurrences and rare metastatic potential. Fibrosarcomatous transformation occurs in a few cases of DFSP which makes them more aggressive in terms of recurrence and metastasis. Here we report the case of a woman in her late 30s who presented with massive lower gastrointestinal (GI) bleeding with a history of multiple surgeries for DFSP on her anterior abdominal wall. The bleeding source was identified to be a mass lesion in the jejunum, which was excised. The patient recovered well and the histopathology revealed fibrosarcoma of the jejunum. Follow-up investigations showed multiple lung nodules, ascites and abdominal lymph nodes suggesting progressive disease. She is currently receiving chemotherapy and progressing well 3 months postoperatively. Patients with fibrosarcomatous changes within DFSP must be followed up closely as it is associated with increased metastatic potential.

Multicentric dermatofibrosarcoma protuberans in patients with adenosine deaminase-deficient severe combined immune deficiency.

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a rare malignant skin tumor associated with a characteristic chromosomal translocation (t[17;22][q22;q13]) resulting in the COL1A1-platelet-derived growth factor ß(PDGFB) fusion gene. This malignancy is rarely diagnosed in childhood. OBJECTIVE: We observed an unexpected high incidence of this DFSP in children affected with adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) and set out to evaluate the association of these 2 clinical entities. METHODS: Twelve patients with ADA-SCID were evaluated with a complete dermatologic examination and skin biopsy when indicated. Conventional cytogenetic and molecular analyses (fluorescence in situ hybridization, RT-PCR, or both) were performed when possible. RESULTS: Eight patients were found to have DFSP. Six patients had multicentric involvement (4-15 lesions), primarily of the trunk and extremities. Most lesions presented as 2- to 15-mm, round atrophic plaques. Nodular lesions were present in 3 patients. In all cases CD34 expression was diffusely positive, and diagnosis was confirmed either by means of cytogenetic analysis, molecular testing, or both. The characteristic DFSP-associated translocation, t(17;22)(q22;q13), was identified in 6 patients; results of fluorescence in situ hybridization were positive for fusion of the COL1A1 and PDGFB loci in 7 patients; and RT-PCR showed the COL1A1-PDGFB fusion transcript in 6 patients. CONCLUSIONS: We describe a previously unrecognized association between ADA-SCID and DFSP with unique features, such as multicentricity and occurrence in early age. We hypothesize that the t(17;22)(q22;q13) translocation that results in dermal overexpression of PDGFB and favors the development of fibrotic tumors might arise because of the known DNA repair defect in patients with ADA-SCID. Although the natural course of DFSP in the setting of ADA-SCID is unknown, this observation should prompt regular screening for DFSP in patients with ADA-SCID.

Cervical Erector Spinae Plane Block for Giant Dermatofibrosarcoma Protuberans of Neck and Chest Wall: A Case Report.

We encountered a giant dermatofibrosarcoma protuberans (DFSP) of the neck and chest wall which presented a challenge in terms of perioperative analgesia management. In recent years, erector spinae plane (ESP) block has emerged as an effective and safe analgesia technique for various surgical procedures as well as for chronic neuropathic pain without any untoward complications. A continuous lower cervical ESP block can be used successfully as an effective analgesic technique for extensive DFSP surgery involving the neck and chest wall area.

Dermatofibrosarcoma Protuberans Occurring in an Adult Presenting with Chronic Lymphedema: A Case Study and Literature Review.

BACKGROUND Dermatofibrosarcoma protuberans (DFSP) is a rare soft-tissue tumor typically located in the trunk. We report a unique case of DFSP in the right inguinal region of an adult presenting with chronic lymphedema. Only 1 case of DFSP and chronic lymphedema association has been previously reported in the literature. Since we could not provide adjuvant radiotherapy (RT), we conducted an extensive review of its application in similar cases, exploring various surgical treatments. CASE REPORT A 42-year-old Cameroonian man with unexplained chronic lymphedema presented with a tumor in the inguinal region of the affected limb. The patient underwent wide local excision (WLE) of the mass, including regional lymph node dissection. Pathological exam confirmed DFSP with a fibrosarcomatous component. Adjuvant RT was considered but not pursued due to the patient;s non-compliance. CONCLUSIONS This DFSP is reported for its rarity of site and the unique co-occurrence with chronic lymphedema. Considering both conditions are uncommon and the rarity of site of the DFSP, we assume that in this patient, chronic lymphedema was a contributing factor of occurrence of the DFSP. Remarkably, no prior reports have detailed an association between chronic lymphedema and DFSP onset. For that reason, we want to point out the value of better follow-up of chronic lymphedema and better knowledge of DFSP treatment options to improve patient healthcare and limit DFSP recurrence. In addition, we found adjuvant RT is an interesting treatment option that might be considered in all patients undergoing surgical excision, even in cases where negative surgical margins were achieved.

Malignancy arising within cutaneous tattoos: case of dermatofibrosarcoma protuberans and review of literature.

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is an uncommon tumor of the skin with high rates of local recurrence. Several reports describe a frequent history of local trauma. In one prior case, a DFSP arising in a tattoo site has been reported. Mohs micrographic surgery (MMS) has been used successfully for treatment. OBJECTIVE: To present a case of dermatofibrosarcoma protuberans arising in the site of a prior and current tattoo, and treated with Mohs micrographic surgery. METHODS: We present findings of a case of a DFSP arising in a tattoo and a review of Medline literature on the association between tattoos and cutaneous malignancy, and treatment of DFSP with MMS. RESULTS: Review of the literature confirms multiple reports of DFSP arising in sites of local trauma, as well as malignancies arising in sites of tattoos. The recurrence rate for MMS treatment of DFSP (0-6.6%) was found to be significantly lower than that for patients treated with wide local excision (13% to 95%). CONCLUSIONS: DFSP should be considered in the differential diagnosis of neoplasms arising within areas of tattoos. Sites of local trauma and tattoos may show predilection for benign and malignant changes and should be evaluated during regular skin exams. Review of the literature confirms MMS is an ideal treatment modality for DFSP as the tumor often extends far beyond clinical margins.

Micrographic surgery (Tubingen torte technique) for the treatment of an invasive dermatofibrosarcoma protuberans with muscular involvement.

Dermatofibrosarcoma protuberans (DFSP) is an uncommon skin tumour characterized by a slow, infiltrative growth and marked tendency towards local recurrences. Wide surgical excision of 3-5 cm from the margins including the fascia is the recommended treatment. Mohs Micrographic Surgery has been shown to afford lower rates of recurrence. The Mohs-Tübingen technique is a variant indicated for very large excisions that allows a complete eradication of the tumour, preserving healthy tissues. We report the case of a 45 year-old man affected by DFSP of the right shoulder deeply infiltrating the muscles, referred to us for a recurrence after a large excision. We submitted the patient to Mohs-Tübingen surgery in collaboration with an orthopaedic surgeon due to the presence of muscular involvement of DFSP. Two surgical operations were necessary to obtain negative histology as the tumor was deeply infiltrating the prescapular muscles. After three years of follow-up, the patient did not have any recurrence and the normal mobility of the shoulder was preserved. Precocious diagnosis and adequate therapy are necessary for DFSP as not only the margins, but also the deep invasion of the tumor have to be carefully controlled.

Unusual bleeding of a giant cell fibroblastoma: a soft tissue sarcoma of the skin mimicking metastatic melanoma.

A 56 year-old man presented to the emergency department after a spontaneous bleeding of a giant mass located on the right axilla. Clinical diagnosis was recurrent hemorrhagic nodular melanoma. Ten months previously a malignant melanoma had been removed from the dorsum by radical excision and surgical margins had been disease-free (MM: Breslow IV, Clark IV, lung and lynphnode metastases). The patient required immediate emergency surgical intervention to prevent death by hemorrhagic shock. The tumor was bleeding and the patient required a transfusion. Subjective symptoms included pain in palpation and spontaneous hemorrhage, poor general appearance, pale skin, BP 80/40 mmHg, HR 100/min with overall symptoms of hypovolemic shock. At the time of surgery, radical tumor excision was performed with an approximately 3 cm circumferential gross tumor free margin. The resultant defect was reconstructed by pectoral rotation fascio-cutaneous flap. The histological diagnosis demonstrated an undifferentiated high-grade pleomorphic sarcoma with microscopic tumor free margins.

A case of Bednar tumor recurring after 23 years.

We reported a patient with a Bednar tumor who developed local recurrence 23 years later. The recurrent Bednar tumor showed the histopathological features dermatofibrosarcoma protuberans (DFSP), and expressed CD34. We favor the term "Bednar tumor" rather than pigmented DFSP and consider that Bednar tumor is an intermediate type between cellular blue nevus and DFSP.

Dermatofibrosarcoma protuberans in two patients with acquired immunodeficiency syndrome.

Dermatofibrosarcoma protuberans (DFSP) is a locally aggressive cutaneous tumor of intermediate malignancy. Most commonly, it arises as an asymptomatic, indurated plaque on the trunk within which protuberant nodules develop over time. We describe its occurrence in two patients with human immunodeficiency virus, a previously unreported association. The first patient, a 41-year-old woman, complained of painful lesions around the left shoulder that developed within a scar from previous trauma to the area. The second patient, a 50-year-old man, developed a recurrent DFSP within the scar from a previous surgical procedure. Dermatofibrosarcoma protuberans was confirmed in both cases by the histopathologic and immunohistochemical findings.

Dermatofibrosarcoma protuberans in an infant with a history of choroid plexus papilloma.

We describe an infant with a dermatofibrosarcoma protuberans (DFSP) who also had a choroid plexus papilloma. This report underscores the occurrence of DFSP in this age group and may support a neural pathogenesis of this tumor.

[Giant cell fibroblastoma associated with Darier-Ferrand dermatofibrosarcoma in an adult]. / Association d'un fibroblastome à cellules géantes et d'un dermatofibrosarcome de Darier-Ferrand chez un adulte.

INTRODUCTION: Giant cell fibroblastoma is a rare mesenchyma tumor of childhood having many similarities with dermatofibrosarcoma protuberans in adults. OBSERVATION: We report the case of a 28-year-old woman presenting a subcutaneous inter-mammary mass associating both tumors. Immunohistochemistry showed an expression of CD 34 only by dermatofibrosarcoma protuberans cells. DISCUSSION: It is important to stress: the rarity of this association, the difficulty to confirm the diagnosis and to establish the links between these two tumors: simple association (as in our case), transformation or recurrence of giant cell fibroblastoma in dermatofibrosarcoma protuberans.