Dermatofibrosarcoma protuberans presenting as a subcutaneous mass: a clinicopathological study of 15 cases with exclusive or near-exclusive subcutaneous involvement

Dermatofibrosarcoma protuberans (DFSP), a cutaneous fibrohistiocytic tumor of intermediate (borderline) malignancy, typically arises in the dermis and subsequently infiltrates the subcutaneous tissue. Very rarely DFSP may either arise within the subcutaneous fat without dermal involvement or show very extensive subcutaneous involvement with only minimal and clinically subtle dermal involvement. We present the clinicopathological features of 15 cases of DFSP showing exclusive or near-exclusive involvement of the subcutaneous fat. The differential diagnosis with other subcutaneous spindle cell neoplasms is emphasized. Awareness of this rare subset of DFSP should prevent its misdiagnosis as other less aggressive tumor types.     

Atrophic dermatofibrosarcoma protuberans: a case report and reappraisal of the literature

Dermatofibrosarcoma protuberans (DFSP) is an uncommon cutaneous malignancy. Unusual presentations described as atrophic have been documented. A case of DFSP with both clinical and histologic atrophy is presented, and all cases purporting atrophy with this tumor are reviewed. Meaningful trends are extracted from this data. In addition, the imprecise use of the term atrophic in regard to DFSP is clarified. We maintain that the variant of atrophic DFSP that mimics atrophoderma or anetoderma, as in this case, is the rarest variant of atrophic DFSP. Atrophic DFSP should be in the differential for depressed lesions on the trunks of women or on the lower extremities of children.     

Primary subcutaneous B-cell lymphoma: case report and literature review

Primary cutaneous B-cell lymphomas are defined as malignant B-cell proliferations presenting with cutaneous involvement alone and no evidence of extracutaneous manifestations when complete staging has been performed. It has been shown that the infiltrate in some cases could involve the underlying subcutaneous tissues, but primary localization in this compartment has been rarely reported. We describe here the case of a 53-year-old woman who noticed a nodular lesion on the left shoulder that rapidly enlarged in a few months. The histological and immunophenotypical features were compatible with a subcutaneous B-cell lymphoma. The tumoural mass was confined predominantly to the subcutaneous compartment, as confirmed by computed tomography. No other tumour localizations were found. Thus, primary B-cell lymphoma of the subcutis was diagnosed. We report a review of the literature indicating that B-cell lymphomas that are primarily localized to the subcutaneous tissues represent a very rare modality of presentation with a biological behaviour different from conventional cutaneous B-cell lymphoma.     

隆突性皮肤纤维肉瘤诊治进展

隆突性皮肤纤维肉瘤是一种发生于皮肤和皮下的间叶细胞恶性肿瘤,以局部复发率高和远处转移率低为特点.近年研究发现,除了组织病理和免疫组化可诊断隆突性皮肤纤维肉瘤外,细胞遗传学、分子生物学、影像学及皮肤镜和皮肤CT(反射式的激光共聚焦显微镜)均对隆突性皮肤纤维肉瘤的诊断、治疗及评估起到重要的辅助作用.目前,对于隆突性皮肤纤维肉瘤的手术治疗为扩大切除手术或Mohs显微外科手术,两种方法各有利弊,术后可辅助放疗、免疫综合治疗;冷冻治疗对复发患者有效;对不能手术或手术切缘阳性的患者需联合靶向药物伊马替尼的治疗.另外,抗雌激素(如他莫昔芬)或新型靶向药物乙酰肝素酶抑制剂roneparstat(SST0001)可能也有一定疗效.     

Primary cutaneous γδ-T-cell lymphoma treated with low-dose methotrexate and narrowband ultraviolet B irradiation: report of a case with testicular involvement

Primary cutaneous γδ-T-cell lymphoma (CGD-TCL) is a rare entity of cutaneous T-cell lymphomas (CTCL) and is characterized by tumoral growth of mature γδ-T-cell expressing cytotoxic molecules. The prognosis of CGD-TCL is generally worse than other CTCL. However, relatively indolent patch/plaque lesions have been described suggesting the heterogeneous nature of this entity. Here, we present a case of CGD-TCL with various skin manifestations, such as erythematous plaques/tumors and subcutaneous panniculitis-like lesions. During the follow up, testicular involvement was detected, which was surgically removed. Histopathology showed mixed features from epidermotropism, dermal infiltration and subcutaneous panniculitis-like lesions depending on the clinical manifestations. The tumor cells were positive for CD3 and revealed cytotoxic markers, TIA-1 and perforin, but not for CD4, CD8, CD20, CD56, TCRβF1 or EBER. Topical glucocorticoid ointment, narrowband ultraviolet B (NB-UVB) irradiation and low-dose methotrexate (MTX) were effective to control these skin lesions. No visceral involvement was detected thereafter. While CGD-TCL is usually associated with poor prognosis, it seems to be composed of various clinical manifestations, and NB-UVB and low-dose MTX could be a choice for indolent patch/plaque and possibly nodular lesions, especially for the aged.     

A pediatric case of dermatofibrosarcoma protuberans: an immunohistochemical study

Dermatofibrosarcoma protuberans (DFSP) is a fibrohistiocytic tumor of intermediate malignancy that usually occurs in early or mid-adult life as a nodular cutaneous mass. DFSP has rarely been reported during childhood or at birth. We report a case of childhood DFSP that illustrates the usefulness of immunohistochemical analysis in the differential diagnosis between DFSP and other fibrohistiocytic proliferations occurring in the skin. A prompt and correct diagnosis is very important in order to ensure appropriate treatment and to prevent local recurrences.     

Mixed nonseminomatous germ cell tumor presenting as a subcutaneous tissue mass

Extragonadal germ cell tumors most commonly arise in the midline of the retroperitoneum or the mediastinum. Primary tumors involving the skin are very rare. Only one case of malignant primary germ cell tumor located in the skin has been reported. We present the case of a 44-year-old white man with a primary subcutaneous mixed nonseminomatous germ cell tumor. This man had a long-lasting subcutaneous lump of the breast, which became painful. Surgery revealed 3 juxtaposed nodules. Microscopic examination showed a mixed germ cell tumor with a 90% immature teratoma component and a 10% embryonal carcinoma component. Testicular ultrasound and computed tomography of the chest, abdomen, pelvis, and brain were normal. Serum human chorionic gonadotrophin, beta-human chorionic gonadotrophin, alpha-fetoprotein, and lactate dehydrogenase were within normal ranges. A further surgical excision was performed. The patient is presently alive with no evidence of disease after a follow-up of 7 years. Review of the literature indicates that primary cutaneous extragonadal germ cell tumors usually occur as cutaneous or subcutaneous solitary nodules or as ulcerated lesions. They mainly consist of mature teratomas in children. Only 2 cases have been reported in adults.     

Dermatofibrosarcoma Protuberans at the Site of a Central Venous Line

Dermatofibrosarcoma protuberans (DFSP) is a locally aggressive cutaneous tumor that usually does not metastasize. Clinically, it may present as a reddish macule to protuberant nodule affecting the trunk and proximal extremities of young and middle-aged adults. Histologically, it is characterized by a monomorphous storiform proliferation of spindle cells, involving the dermis and hypodermis, with a honeycomb pattern of infiltration of the subcutaneous fat. In case of difficulty in diagnosis, immunohistochemical markers (especially CD34) are highly sensitive for DFSP. It is important to remember that the rarity of DFSP, its resemblance to hypertrophied scars and keloids, and its appearance at trauma sites sometimes make the diagnosis of DFSP difficult and delayed. In the literature, DSFP was not described in a child until 1957. Here we report an instance of DFSP at an unusual site in a 9-year-old child, which was the location of a previous central venous line insertion in the left supraclavicular area. A complete excision of the tumor with a wide surgical margin of 3cm of visibly uninvolved tissue was performed, followed by a deltopectoral flap and skin split graft. Postoperatively, the patient's general condition was stable and he was discharged after 5 days to be followed up 3 months later in our clinic.     

A unique biphasic variant of cutaneous fibrous histiocytoma with a storiform pattern and intralesional pigmented melanocytes: "storiform melano-fibrous histiocytoma"

Dermatofibromas (cutaneous fibrous histiocytomas) are common cutaneous neoplasms of mesenchymal origin. They are often associated with epidermal hyperplasia and increased basal layer pigmentation. There have been reports of a spectrum of melanocytic lesions associated with dermatofibromas ranging from junctional nevi to malignant melanomas, some of which may be coincidentally associated. We report a case of a long-standing storiform fibrohistiocytic lesion devoid of cytological atypia, lacking extension into subcutaneous fat, not demonstrating the t(17;22) DFSP translocation yet showing diffuse and strong CD34 immunoreactivity and containing pigmented spindle shaped melanocytic cells admixed with the fibrohistiocytic component. This case raises a nosological debate given the histological, immunophenotypic and cytogenetic findings.     

Dermatofibrosarcoma protuberans: a tumour of nestin‐positive cutaneous mesenchymal stem cells?

Background There is an increasing body of evidence suggesting that malignancies arise from mutated stem cells, which has led to the formulation of the cancer stem cell hypothesis. It has also been suggested that cutaneous malignancies originate from a mutated stem cell. To date, mesenchymal tumours of the skin have not been the focus of the cancer stem cell hypothesis. A population of mesenchymal stem cells has recently been identified in the dermal compartment of the skin. These proposed stem cells are positive for the neuroepithelial stem cell marker nestin. Objectives  To describe the expression pattern of nestin, a neuroepithelial stem cell protein, in dermatofibrosarcoma protuberans (DFSP). Methods Immunohistochemical evaluation of DFSP with a monoclonal antibody against nestin was performed using standard techniques. For comparison we also analysed dermatofibromas (DF). In addition, we used antibodies against CD34 and Factor XIIIa; the proliferation marker Ki67 was also used. Results Strong immunoreactivity for nestin was found in DFSP whereas all DF cases were nestin‐negative. Conclusions We propose that DFSP may represent a clonal expansion of a nestin‐positive mesenchymal stem cell which would put this tumour in line with other neoplasms for which the cancer stem cell hypothesis was formulated. We suggest the use of nestin as an additional marker for DFSP, especially in cases of negative immunoreactivity for CD34. Nestin may also be employed for margin evaluation of DFSP in micrographic (Mohs) surgery.     

Cutaneous zosteriform squamous cell carcinoma metastasis arising in an immunocompetent patient

Cutaneous metastases from internal malignancies or primary skin cancers are uncommon, and a zosteriform pattern is very rare. Histologically, these cutaneous metastases usually appear as malignant epithelial cells located throughout the dermis or subcutaneous fat and without connection to the overlying epidermis. The presence of melanocytes in such lesions is atypical. Moreover, although zosteriform cutaneous metastases of cutaneous squamous cell carcinoma have previously been described in immunosuppressed patients, they have not been reported in immunocompetent patients. We report an unusual case of a woman with cutaneous hyperchromic zosteriform metastases, clinically mimicking a metastatic melanoma but appearing histologically as epidermotropic and pigmented metastases of a cutaneous squamous cell carcinoma.     

Dermatofibrosarcoma protuberans presenting in infancy and childhood

Dermatofibrosarcoma protuberans (DFSP) is a not uncommon low-grade cutaneous sarcoma of uncertain histogenesis, which typically arises in early to middle adult life. Traditionally, it is regarded as extremely uncommon in infants and children, and this diagnosis may therefore easily be overlooked in young patients. Eight such cases (representing 5.9% of the available DFSPs on file) are presented of which two were congenital. Age range at presentation was 14 months to 12 years. Five arose on the trunk. Most had originally been mistaken for unclassified sarcoma, a fibromatosis, or diffuse neurofibroma. The histologic features were entirely comparable to the more usual adult cases except that all had a plaque-like, rather than nodular, growth pattern. Short-term follow up has revealed no recurrences. DFSP is not so rare in childhood and warrants wider recognition in order to ensure appropriate treatment.     

Congenital dermatofibrosarcoma protuberans: variability in presentation

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is an uncommon low-grade fibrohistiocytic tumor that usually occurs on the trunk or proximal extremities and typically appears during the second to fifth decade of life. It most commonly begins as a red-blue plaque that grows slowly and ultimately becomes nodular. The tumor is associated with a high recurrence rate but low metastatic potential. It rarely presents in childhood and is even more rarely present at birth. The clinical diagnosis of DFSP in infancy or childhood may be difficult because, in its early stages, the tumor often resembles a vascular birthmark. OBSERVATIONS: We studied 6 patients with congenital DFSP who were initially thought to have other diagnoses, highlighting the potential clinical variability in presentation. Half of the cases in this series occurred in areas of the body outside of the typically reported distribution pattern of acquired DFSP and in locations that, therefore, may not arouse suspicion of congenital DFSP. CONCLUSIONS: Given the aggressive local potential and high recurrence rate of DFSP, early diagnosis is preferable to facilitate appropriate excision. We recommend that any infant or child presenting with a cutaneous plaque or nodule, even congenital, that does not have characteristic or diagnostic clinical features undergo tissue biopsy for histologic evaluation.     

Differential expression of factor XIIIa and CD34 in cutaneous mesenchymal tumors

The histogenetic relationship amongst various dendritic cells of the dermis which may express markers including factor XIIIa (FXIIIa) or CD34 remains unclear. In this study we utilized a sensitive indirect immunoperoxidase staining technique to identify CD34 and FXIIIa, as well the monocyte/macrophage markers KP-1 and MAC 387 expression in a variety of cutaneous dermal tumors of mesenchymal origin to see if differentia] expression of CD34 vs FXIIIa exists. Tumors studied included dermatofibroma (DF) (N = 10), keloid (N=9), atypical fibroxanthoma (AFX) (N = 3), and dermatofibrosarcoma protuberans (DFSP) (N = 7). DF were all composed of FXIIIa + spindle-shaped and stellate tumor cells (mean score = 4.9 or ≥ 75% FXIIIa +) as previously reported, but these cells rarely (< 10%) expressed CD34. Six of 7 DFSP were found to be > 75% CD34+ and FXIIIa negative, while one DFSP was negative for both CD34 and FXIIIa. In all DFSP, there were trapped FXIIIa+ cells which were distinct from the spindle-shaped tumor cells. AFX showed sparse populations of FXIIIa + cells in the stroma (mean score = 1.33 or 10–25% positive), which were distinct from the atypical giant cells characteristic of these tumors. Keloid similarly contained trapped FXIIIa+ cells (mean score = 0.44 or < 5% positive) that were distinct from the spindle-shaped fibroblasts of the tumor mass. Dendritic and spindle-shaped cells within these tumors were consistently both KP-1 and Mac-387 negative, while all lesions studied were characterized by scattered round, histiocytic cells which were KP-1 + and/or Mac-387 + irrespective of tumor cell type. We suggest that these tumors can be delineated by their relative degrees of FXIIIa and CD34 expression and that these neoplasms may be a useful link with which to study the relationship between CD34+ cells and dermal dendrocytes.     

Cutaneous manifestations of cytomegalovirus infections

The cutaneous manifestations that occur commonly in cytomegalovirus (CMV) infections are erythematous maculopapular eruptions or purpuric rashes . But, CMV has been detected in chronic mucosal and skin ulcerations, benign tumour-like lesions and eroded gingivitis. Most of these cutaneous lesions are secondary to vasculitis of the small dermal, subcutaneous tissue or submucosa vessels. The authors discuss the different physiopathological mechanisms which may be involved in the development of these viral-induced vasculitis. Dermal erythropoiesis in neonatal infants and localized granulomatous lesions have been also reported.     

Multiple spindle cell lipomas and dermatofibrosarcoma protuberans within a single patient: evidence for a common neoplastic process of interstitial dendritic cells?

This case report describes a 48-year-old man with multiple spindle cell lipomas of the neck and a dermatofibrosarcoma protuberans (DFSP) with fibrosarcomatous transformation of the chest. The presence of familial and nonfamilial multiple spindle cell lipomas within a single patient is a rare event, with only two reports in the current literature. This case represents the first report of multiple spindle cell lipomas occurring in association with a DFSP. It is of particular interest in that both spindle cell lipoma and DFSP represent, at least in part, neoplastic proliferations of CD34(+) spindled cells. The exact nature and differentiation of these spindled cells remains controversial, but prior studies have suggested that they could represent neoplastic interstitial dendritic cells. The association of DFSP and spindle cell lipoma within this single patient suggests that these two tumors (and their histologic variants) may well be linked, conceptually, as neoplastic proliferations of CD34(+) interstitial dendritic cells.     

Subcutaneous sarcoidosis in a melanoma scar

Cutaneous sarcoidosis often has been referred to. as the great imitator because skin lesions can present with various morphologies. Skin lesions may be the only site of involvement or may accompany systemic disease. Occasionally, sarcoidosis also may infiltrate scars from prior trauma, tattoos, or surgery. We report a case of subcutaneous sarcoidosis limited to a melanoma scar without any other cutaneous or systemic involvement. Familiarity with and proper diagnosis of cutaneous sarcoidosis can allow for appropriate systemic screening and timely management of the disease.