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.     

Clinical variants of the preprotuberant stage of dermatofibrosarcoma protuberans

BACKGROUND: Some cases of dermatofibrosarcoma protuberans (DFSP) do not protrude above the skin. OBJECTIVES: To assess the prevalence of these DFSPs and further to describe their presentation and course. METHODS: One hundred and forty-three patients were retrospectively collected. They were asked to complete a standardized questionnaire indicating the history and appearance of the DFSP from the first skin changes identified to the time of diagnosis. RESULTS: Eighty-one DFSPs were described as protuberant ab initio, and 62 as initially nonprotuberant (npDFSP). The latter remained at this stage for a mean period of 7.6 years. Twenty-nine per cent of npDFSPs were 'morphoea-like', 19% were 'atrophoderma-like' and 42% were 'angioma-like'. Age at diagnosis was similar for both initial presentations. npDFSPs were most often misdiagnosed by physicians. CONCLUSIONS: Nearly half the patients first identified their early DFSP-related skin changes as patches. Both this frequency and the long duration at this preprotuberant stage should prompt dermatologists to consider the diagnosis of DFSP earlier, in order to make surgical treatment easier.     

A case of childhood dermatofibrosarcoma protuberans without detected cytogenetic abnormality

Dermatofibrosarcoma protuberans (DFSP) is a rare, infiltrative skin tumour of intermediate malignancy, with a limited potential for metastasis but a high rate of recurrence; specific cytogenetic abnormalities are now known. Childhood DFSP has been considered a rarity in the past, but it is now recognized that many cases of childhood DFSP are diagnosed only in adulthood. Despite advances in the understanding of its pathogenesis as well as the development of valuable immunohistochemical and cytogenetic diagnostic techniques, there often remains a significant delay between the initial presentation and diagnosis of DFSP. We report a case of childhood DFSP in which the diagnosis was reached only after a nodular lesion developed in a plaque that was initially present. Causes for delay between initial presentation and diagnosis in childhood DFSP are discussed. Histology and immunostaining in our patient showed the typical features of DFSP, but the G-banded cytogenetic analysis of short-term tissue culture was negative. However, this technique offers only a detection rate between 50% and 80%. Clinicians should be aware of the limitations of newer diagnostic techniques. Increasing recognition amongst paediatricians and paediatric dermatologists that childhood DFSP is not as rare as once believed will probably lead to the use of newer diagnostic methods at an earlier stage, and so reduce the delay between the onset of symptoms and diagnosis.     

The atrophic variant of dermatofibrosarcoma protuberans in childhood: a report of six cases

Dermatofibrosarcoma protuberans (DFSP) is typically diagnosed during early adult life at a tumoral stage. It occurs only rarely in children. We report six childhood cases of DFSP which presented initially with the misleading clinical appearance of atrophic plaques, and we review over 140 cases of DFSP in childhood. As compared with adult forms, DFSP in children does not show distinctive features except for a tendency for acral localization. The diagnosis is difficult because of the slow course of the lesions, which present initially as apparently benign atrophic morphoeaor keloid-like plaques. We believe that DFSP in childhood is probably under-estimated, as a significant proportion of patients diagnosed as young adults had an onset several years earlier. Better knowledge of the initial appearance is important for making an early diagnosis and for an easier surgical treatment.     

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 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.     

Deep dermatofibrosarcoma protuberans: a pitfall in the ultrasonographic diagnosis of lipoma-like subcutaneous lesions

Dermatofibrosarcoma protuberans (DFSP) is an indolent sarcoma known for its propensity for local invasive growth and recurrence. It typically presents as a protuberant tumor mass. Rare nonprotuberant presentations have recently been described; these invariably present as pigmented or depressed plaques. Lesions arising in the subcutaneous compartment and without cutaneous manifestations have rarely been reported or emphasized in the literature. Here we report a case of deep DFSP that lacked discernible epidermal or dermal changes, was mistaken for a lipoma, and localized entirely within the subcutaneous compartment. Ultrasonography may not be useful in differentiating DFSP from benign tumors. In addition, a review of the English language literature revealed that these deep-seated tumors might be more common than originally believed. For this purpose, the current case is presented to raise awareness for DFSP, which can be present entirely in the subcutis without cutaneous manifestations and thus easily overlooked.     

Congenital Dermatofibrosarcoma Protuberans: A Case Report and Literature Review

Congenital dermatofibrosarcoma protuberans (DFSP) is an extremely rare skin tumor that is commonly misdiagnosed, or is often diagnosed long after the initial presentation. Although many cases of DFSP are diagnosed in adulthood, there are some differences between adult DFSP and congenital DFSP. We report a case of congenital DFSP that was initially misdiagnosed as a simple vascular lesion. The delay in diagnosis led to the considerable growth of the lesion, such that a huge scar was left after the surgical treatment. The major differences between adult and congenital DFSP are discussed through a literature review. Clinicians should be aware of the characteristics of congenital DFSP, to reduce misdiagnosis and the delay of diagnosis from the initial presentation.     

先天性黏液型隆突性皮肤纤维肉瘤一例并文献复习

先天性DFSP临床罕见,其临床表现可类似血管性病变。黏液型先天性隆突性皮肤纤维肉瘤(congenital dermatofibrosarcoma protuberans,DFSP)是DFSP独特而罕见的亚型,具有其特征性病理组织学改变,生物学行为属交界恶性/潜在低度恶性。先天性黏液型DFSP更为罕见,国外仅有2例散发病例报道。本文报道一例并回顾相关文献。患儿,女,1岁9个月。出生后即有背部肿物,曾于外院误诊为血管瘤,予盐酸噻吗诺尔眼药水外敷治疗1年余,效果不佳。肿物不断增大,就诊我科后,予手术切除肿物并行病理组织学及免疫组织化学检查,诊断为先天性黏液型隆突性皮肤纤维肉瘤。考虑病理回报底切缘最近距离仅0.25 mm,根据指南行肿瘤边缘1 cm扩大切除治疗,随访2年未发现复发及转移。     

CD34 expression in desmoplastic melanoma

BACKGROUND: Primary and metastatic malignant melanoma can simulate various soft tissue tumors, including dermatofibrosarcoma protuberans (DFSP). Expression of CD34, a marker characteristic of DFSP, as well as other spindle cell tumors, has not been previously documented in malignant melanoma. METHODS: We present here an unusual case of metastatic malignant melanoma with a strong histologic resemblance to DFSP and also CD34 expression. RESULTS: The patient, a 72-year-old man with a history of an invasive malignant melanoma of the skin of the right lower abdomen, presented with a right axillary mass. Histologic sections revealed intersecting fascicles of spindle cells with nuclear pleomorphism and numerous mitotic figures, diffusely infiltrating the adipose tissue in a pattern closely simulating that seen in DFSP. In other foci, epithelioid neoplastic cells with abundant cytoplasm, prominent nucleoli, nuclear pseudoinclusions, and focal cytoplasmic melanin pigment were seen. The neoplastic spindle cells were strongly labeled by two anti-CD34 monoclonal antibodies. Some of the spindle cells and the majority of the epithelioid neoplastic cells expressed S-100 protein and focally tyrosinase. The tumor cells were negative for HMB-45 and MART-1. Melanosomes were not identified by electron microscopy. CONCLUSION: This case demonstrates the potential of melanoma to simulate DFSP closely, on both morphologic and immunohistochemical grounds, and confirms the utility of employing a broad panel of immunohistochemical reagents in problematic cases.     

隆突性皮肤纤维肉瘤30例临床分析

目的探讨隆突性皮肤纤维肉瘤(DFSP)早期临床及组织病理特征,降低临床误诊率,并为其诊断和治疗提供参考,以进一步降低复发率。方法收集30例临床资料完整被诊断为DFSP的病例,并对其进行临床分析。结果 30例患者男女比例为1:1,平均年龄(40.97±18.8)岁。术前80%诊断为其他皮肤病。均有组织病理学检查,表现为典型的梭形肿瘤细胞呈席纹状、车辐状排列。免疫组化染色显示CD34、vimentin阳性率为100%,SMA、S-100蛋白阴性率为100%。16例行局部切除术,其中复发10例(62.5%);14例行扩大切除术,其中复发2例(14.3%)。结论通过组织病理学及免疫组化检查,可降低临床误诊率。同时强调规范手术治疗重要性,探索新的辅助治疗,以降低术后复发率。     

Atrophic dermatofibrosarcoma protuberans with diffuse eosinophilic infiltrate

Atrophic dermatofibrosarcoma protuberans (atrophic DFSP) is a variant of dermatofibrosarcoma protuberans (DFSP), and is clinically characterized by depressed lesions. We report a patient with a typical atrophic DFSP lesion with marked eosinophilic infiltration. The patient was a 55-year-old woman with a dark-red, depressed lesion in the epigastric region. Histopathological examination of the lesion showed proliferation of fibroblast-like cells in a storiform pattern in the dermis and subcutaneous tissue. Immunohistochemical staining of tumor cells was positive for CD34. The lesion was histopathologically typical of DFSP, but no elevated lesion was clinically observed. Thus, a diagnosis of atrophic DFSP was made. Moreover, this tumor tissue exhibited marked eosinophilic infiltration. To our knowledge, they are no reports of eosinophilic infiltration in DFSP tissue. Therefore, this seems to be an extremely rare case of DFSP.     

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.     

A study of CD117 expression in dermatofibrosarcoma protuberans and cellular dermatofibroma

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a relatively uncommon spindle cell tumor of the skin. It is locally aggressive and can be a therapeutic challenge. There are case reports of partial response of DFSP to the tyrosine kinase inhibitor STI571 (Imatinib), despite the reported negativity of the tumor cells for CD117. At least one publication reported focal CD117 positivity of DFSP cells, and we would like to clarify the issue. Cellular dermatofibroma (CDF) can mimic DFSP, but typical cases are easily differentiated from DFSP by their staining pattern for CD34 and factor 13a. We also report our experience with CD117 staining of typical CDFs. METHODS: Thirty-seven cases of clear-cut DFSP and 13 cases of clear-cut CDF were retrieved from the archives of Sunnybrook Health Sciences Center between 2000 and 2005. RESULTS: All DFSPs were CD34 (+), factor 13a (-) and CD117 (-). All CDFs were factor 13a (+), CD34 (-) and CD117 (-). CONCLUSIONS: Our study on a relatively large number of cases confirms the negativity of DFSP and CDF for CD117. Therefore, if adjuvant therapy is attempted with drugs such as STI571 (Imatinib), the eligibility of patients should not be based on immunohistochemical assessment of CD117 expression.     

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.     

Dermatofibrosarcoma protuberans en la infancia

Dermatofibrosarcoma protuberans (DFSP) is a fibrohistiocytic tumor of intermediate malignancy that is very rare in childhood. Only 6% of these tumors present in children. Clinical diagnosis is very difficult in the early stages of disease, but to ensure appropriate treatment it is important to identify DFSP as early as possible and rule out benign conditions that are more common at this age.The clinical presentation and histopathologic and molecular characteristics of DFSP are similar in children and adults. Clinical diagnosis is, however, more difficult in children and requires a high degree of suspicion. The absence of characteristic features and the rarity of this tumor explain why diagnosis is often delayed. Complete surgical excision of the tumor is very important to reduce the risk of recurrence.This article presents a review of current knowledge about the management of DFSP in children and examines the latest treatment options.     

隆突性皮肤纤维肉瘤中PTEN的表达

目的:观察隆突性皮肤性纤维肉瘤中PTEN的表达情况,探讨它的意义.方法:使用免疫组化结合图像分析法检测39例隆突性皮肤纤维肉瘤(DFSP)、30例皮肤纤维瘤(DF)中CD34、PTEN的表达情况.结果:CD34蛋白在DFSP中表达明显高于在DF的表达;而PTEN蛋白在DFSP中的表达低于DF，差异具有统计学意义（P＜0.05) .直线相关分析表明:CD34和PTEN蛋白的表达之间无相关性(P＞0.05).结论:PTEN与隆突性皮肤纤维肉瘤的发生、发展密切相关,除CD34外,可作为隆突性皮肤纤维肉瘤与皮肤纤维瘤鉴别的参考指标.     

Dermatofibrosarcoma Protuberans in Childhood

Abstract: Dermatofibrosarcoma protuberans (DFSP) is a rare cutaneous tumor with a possibly misleading presentation. It is rare in childhood. We report an 18-month-old child with an acquired atrophic plaque of the left ankle. Based on clinical findings, initial proposed diagnoses included localized scleroderma and localized lipoatrophy. At the age of 5 years the plaque had increased in size and become a purplish color. Several firm nodules were seen at its periphery. A diagnosis of DFSP was proposed and confirmed histologically. A large surgical resection was performed. This case illustrates that DFSP may occur In childhood, during which initial diagnosis is generally more difficult than in adulthood.     

Report of Two Cases of Recurrent Scalp Dermatofibrosarcoma Protuberans and Literature Review

Dermatofibrosarcoma protuberans (DFSP) are rare malignant skin tumor, and scalp DFSP is even lesser than 5% of all DFSP, therefore, being seldom reported. We recently treated two cases of recurrent scalp DFSPs. One was a 38-year-old male, who accept lumpectomy for the first time; however, it recurred 9 months later. We then performed a wide excision resulting in no recurrence in the subsequent 4 years. Another patient was a 26-year-old female, who accept an in situ tumorectomy for the first time, and 2 years later; the recurrent mass became 9 × 9 cm in size. We gave her another operation, but only 3 months later local recurrence appeared. For the both cases, we collected their case histories, intraoperative findings, pathologic detections, and follow-up results, all of which may help the dermatologists to extend knowledge about this rare disease. Moreover, an exhaustive review of the literature is included with emphasis on diagnosis, different diagnosis and treatments.