Atrophic Dermatofibrosarcoma Protuberans Research Articles

Molecular Pathogenesis and Histological Variability of Dermatofibrosarcoma Protuberans

Dermatofibrosarcoma protuberans (DFSP) is a kind of infrequent tumor of the soft tissues distinguished by its gradual proliferation and a preference for regional reoccurrence, despite its limited capacity for metastasis. At the molecular level, a significant majority of DFSP cases manifest the t (17;22) (q22; q13) chromosomal translocation, resulting in the fusion of the collagen type I alpha chain (COL1A1) gene and platelet-derived growth factor B chain (PDGFB) gene. This fusion results in PDGFB overexpression, consequently activating the PDGF Receptor-beta (PDGFR-β). The activated PDGFR-β serves as a central nexus for numerous intracellular signaling pathways, initiating cascades including Phosphatidylinositol 3-kinase (PI3K)/Akt, Mitogen-Activated Protein Kinase (MAPK)/extracellular signal-regulated kinase (ERK), and STATs pathways. These cascades collectively enhance DFSP cell growth, proliferation, and invasiveness. Histologically, DFSP tumors are predominantly fibroblastic and display distinct immune cell infiltration patterns in their microenvironment. Elevated expression of CD4+ naïve cells, CD4+ Th2 cells, CD8+ central memory T cells, B cells, and macrophages is evident, while levels of CD4+ central memory T cells and eosinophils are diminished. Immunohistochemical analyses further highlight that most DFSP cells exhibit positive cytoplasmic CD34 expression, whereas factor XIIIa and α-smooth muscle actin are notably absent. Clinically, DFSP presents in diverse subtypes, each characterized by its unique histological profile. Prominent subtypes encompass classic DFSP, fibrosarcomatous DFSP (FS-DFSP), pigmented DFSP, giant cell fibroblastoma, myxoid DFSP, atrophic DFSP, and the granular cell variant. This review aspires to deliver an exhaustive insight into DFSP, accentuating its molecular underpinnings and clinical presentation, with the ultimate goal of advancing our understanding and management of this distinct dermatological entity.

Congenital Atrophic Dermatofibrosarcoma Protuberans: A Case Report and Review of the Literature

Dermatofibrosarcoma protuberans (DFSP) is a rare mesenchymal tumor of intermediate malignant potential. The neoplasm is locally aggressive with a high rate of recurrence. It typically presents in adults. Atrophic congenital DFSP is extremely rare. The few reported cases have presented as a morphea-like plaque that persists for years, before progressing into a nodular form. To our knowledge, congenital atrophic DFSP has been only reported fourteen times, and of those, only nine were confirmed by molecular studies. Herein we report a congenital case of atrophic DFSP, which initially presented as a bruise-like atrophic plaque on the dorsal forearm, initially mistaken for child abuse. The clinical appearance, histopathology, and molecular features of this rare form of DFSP are reviewed. Our case highlights the importance of early detection and adequate sampling of congenital DFSP; early treatment allows for treating small lesions without large, disfiguring, and potentially disabling excisions.

Dermatofibrosarcoma protuberans in pregnancy: a case series and review of the literature.

Dermatofibrosarcoma protuberans (DFSP) is a rare cutaneous sarcoma, which has been reported in pregnancy. This case series reports the clinical and histopathological findings of DFSP in pregnancy. Eighteen cases of DFSP, including six unreported cases and 12 cases from the literature, were identified. Age, anatomic location, tumor size, changes in tumor characteristics during pregnancy, histopathological features, and treatment were recorded. Follow-up data, when available, were noted. The average age of the cohort was 30.6years (range 19-38). Ten tumors (55.6%) were located on the trunk, four (22.2%) on the head and neck, three (16.7%) on the extremities, and one (5.6%) in the genitalia. Most tumors demonstrated features of conventional DFSP (12/18, 66.7%), while the remaining were identified as DFSP with fibrosarcomatous (FS) change (3/18, 16.7%), atrophic DFSP (2/18, 11.1%), and myxoid DFSP (1/18, 5.6%). Treatment was reported in 17 cases, at least nine of which were treated postpartum. Ten patients were treated with excision, while seven underwent Mohs micrographic surgery. Three patients recurred on follow-up, one with local recurrence and two with distant metastasis. DFSP can undergo enlargement or change in size or color in pregnancy, possibly mediated by hormones. While the majority of cases in this series represented conventional DFSP, unusual clinical and histopathological variants were also present. Treatment in most cases can be safely delayed until after delivery, but recurrent or very large tumors may require treatment prepartum. Close monitoring for recurrence or metastasis is advised.

Atrophic dermatofibrosarcoma protuberans: a clinicopathological study of 16 cases

We present a case series of atrophic dermatofibrosarcoma protuberans (DFSP) to further characterise its clinical and pathological features. Sixteen cases were enrolled in the study. There were five males and 11 females with a median age of 28 years. The vast majority occurred in the trunk (12/16, 75%), whereas a minority involved the upper limb or limb gird (2/16, 12.5%), and head and neck region (2/16, 12.5%). The most common presentation was a depressed plaque-like lesion with a greyish-red to purplish-blue colour. Histologically, the lesion was dermal-based consisting of monomorphous spindle cells arranged in parallel fascicles with focal areas displaying storiform architecture. In addition, one case showed remarkable hyalinisation of the matrix, two cases contained scattered pigmented dendritic cells and one case had admixed giant cell fibroblastoma-like component, respectively. The diagnosis was confirmed by immunohistochemical study, and by further fluorescence in situ hybridisation analysis in six cases. Follow-up thus far has revealed a relatively low rate of local recurrence (1/10, 10%). Familiarity with the distinctive clinical and pathological features of atrophic DFSP helps avoid misdiagnosis. Like a classical DFSP, morphological variants can also occur in an atrophic DFSP, including pigmented, sclerosing and hybrid subtypes, albeit rare.

Atrophic dermatofibrosarcoma protuberans presenting as an enlarging atrophic plaque on the chest over 26 years : a case report

Atrophic dermatofibrosarcoma protuberans presenting as an enlarging atrophic plaque on the chest over 26 years : a case report

Dermatoscopic findings of atrophic dermatofibrosarcoma protuberans.

Dermatofibrosarcoma protuberans (DFSP) is an uncommon locally aggressive mesenchymal tumor with a high local recurrence rate. Atrophic DFSP is a rare variant of DFSP characterized by a non-protuberant lesion. We report on a 23-year-old female, who presented with an atrophic, asymptomatic macule on the right side of her back 2 cm in diameter. Dermatoscopic examination revealed homogenous pigment network on a purplish erythematous background. The histopathological finding of the incisional biopsy material was consistent with DFSP. To our knowledge, this is the second case of atrophic DFSP discussing the dermatoscopic features of this relatively rare condition.

Table of Contents

Dermatofibrosarcoma protuberans (DFSP) is a rare superficial tumor characterized by high rates of local recurrence and low risk of metastasis. DFSP occurs most commonly on the trunk and proximal extremities, affects all races, and often develops between the second and fifth decade of life. The tumor grows slowly, typically over years. Histologically, several variants of DFSP have been described and should be well characterized to avoid misdiagnosis with other tumors. These include pigmented (Bednar tumor), myxoid, myoid, granular cell, sclerotic, atrophic DFSP, giant cell fibroblastoma, and DFSP with fibrosarcomatous areas. Of all these variants, only the DFSP with fibrosarcomatous areas is high grade, with a higher rate of local recurrence and distant metastasis. DFSP is genetically characterized by the t(17;22)(q22;q13), resulting in the fusion of alpha chain type 1 of collagen gene and platelet-derived growth factor beta gene. This translocation is present in 90% of DFSP and represents a very useful tool in the differential diagnosis of DFSP with other tumors with similar histology. The standard treatment is wide local excision with at least a 2-cm margin. However, local recurrence after apparently adequate surgical excision is well recognized. Mohs micrographic surgery would be the treatment of choice with a better cure rate and maximal conservation of tissue. When surgery is insufficient, clinical evidence has suggested that imatinib mesylate is a safe and effective treatment in DFSP, especially in cases of local advanced or metastatic disease. This article presents an overview of the state of the art in the clinicopathological management of this disease.

Dermatofibrosarcoma protuberans on the chest with a variety of clinical features masquerading as a keloid: is the disease really protuberant?

Dear Editor: Dermatofibrosarcoma protuberans (DFSP) is regarded a locally invasive, low-grade sarcoma. DFSP is typically characterized by its protuberant appearance. The DFSP in our patient had a clinically heterogeneous appearance, which is very rare, so the DFSP was initially misdiagnosed as a keloid. A 46-year-old male presented with a progressing skin lesion on his anterior chest. The erythema with itching had developed in his 20s, and the nodules appeared gradually. The nodules were thought to be keloids, so he received intralesional steroid injections for a few years at a dermatological clinic. However, that therapy had little effect, and he was referred to our department. He presented with an 8.0×10.0-cm shiny, atrophic skin-colored plaque, in which indurated erythema and painful keloid-like nodules were observed (Fig. 1). These nodules were also found on his chest area. The atrophic plaque (Fig. 2A), erythema (Fig. 2B), and nodule (Fig. 2C) were biopsied. Fig. 1 Clinical features of the 3 different lesions: shiny atrophic plaque (8.0×10.0 cm), indurated erythema, and painful, keloid-like red nodules (largest nodule: 2.0×1.5 cm) on the anterior chest. Fig. 2 Histopathological features of the lesions (HE a few proliferating spindle cells are seen (B). Erythematous plaque (C); storiform pattern is evident, but cellularity is low (D). Keloid-like nodule (E); typical ... Histologically, the 3 samples showed common basic structures. The epidermis consisted of atrophic and spindle-shaped cells, showing little atypism; the cells proliferated in a storiform pattern throughout the dermis and even extended to the lobular structures of fatty tissue. The tumor cells were CD34 positive. To identify the histological differences according to clinical status, we examined the cellularity and positive staining rates for Mib-1 in the atrophic plaque, erythema, and nodule. The cellularity count for each sample was performed in 10 randomly selected areas at high magnification (×200). The degree of cellularity in the nodular lesion (Fig. 2F) was higher than that in the other lesions (Fig. 2D, E). The mitotic index was similar among the 3 lesions. Later, the tumor was resected along the planned 3-cm margin. The overlying skin defect was reconstructed using a flap from the greater pectoral muscle. At the follow-up after 2 years, the patient was found to be free of the disease. DFSP is typically characterized by its protuberant appearance during early or middle adulthood. However, several cases of clinical and pathological unusual variants, such as Bednar's tumor and myxoid, sclerosing, fibrosarcomatous, atrophic, and nonprotuberant DFSP have been reported1. Our patient showed unique and various clinical features in a single location, including atrophic plaque, indurated erythema, and keloid-like nodules. What factors cause these different clinical appearances? The atrophic variant of DFSP is most commonly found on the trunk of women2. Furthermore, atrophic DFSP is more common among children and young adults3 than among the elderly. Martin et al.4 reported a nonprotuberant form of DFSP, and nearly half of their patients identified their early DFSP-related skin changes as patches, and the nonprotuberant stage lasted for 7.6 years. In those cases, the clinical appearance of the lesions resembled that of morphea, morpheaform basal cell carcinoma, atrophoderma, or angioma lesions. The COL1A1-PDGFB fusion gene is present in all the cases of DFSP subtypes. The different types of fusions between COL1A1 and PDGFB, however, are not related to the differences in clinical or histological features5; the factors contributing to these clinical differences have not yet been clarified. DFSP is not always protuberant, and awareness of this rare clinical presentation may assist in the early diagnosis of unusual variants of DFSP.

Atrophic dermatofibrosarcoma protuberans with minimal clinical manifestation

Dermatofibrosarcoma protuberans is an uncommon soft tissue neoplasm. In the vast majority of cases it presents as a nodule or a firm tumor that can reach massive dimensions producing the protuberant nodules for which it is named. We report a case of a 34-year-old woman presented at our department with an 8-year history of a small and discretely erythematous supraclavicular atrophic plaque. Skin biopsy lead to the diagnosis of dermatofibrosarcoma protuberans and a wide local excision of the tumor was performed in collaboration with the Plastic Surgery department. In this clinical case we describe an uncommon variant of the disease with minimal clinical manifestation that can cause serious diagnostic difficulties. The small and discrete atrophic plaque of our patient could have been easily ignored with serious clinical and prognostic implications for the patient.

Dermatofibrosarcoma protuberans: a comprehensive review and update on diagnosis and management

Dermatofibrosarcoma protuberans (DFSP) is a rare superficial tumor characterized by high rates of local recurrence and low risk of metastasis. DFSP occurs most commonly on the trunk and proximal extremities, affects all races, and often develops between the second and fifth decade of life. The tumor grows slowly, typically over years. Histologically, several variants of DFSP have been described and should be well characterized to avoid misdiagnosis with other tumors. These include pigmented (Bednar tumor), myxoid, myoid, granular cell, sclerotic, atrophic DFSP, giant cell fibroblastoma, and DFSP with fibrosarcomatous areas. Of all these variants, only the DFSP with fibrosarcomatous areas is high grade, with a higher rate of local recurrence and distant metastasis. DFSP is genetically characterized by the t(17;22)(q22;q13), resulting in the fusion of alpha chain type 1 of collagen gene and platelet-derived growth factor beta gene. This translocation is present in 90% of DFSP and represents a very useful tool in the differential diagnosis of DFSP with other tumors with similar histology. The standard treatment is wide local excision with at least a 2-cm margin. However, local recurrence after apparently adequate surgical excision is well recognized. Mohs micrographic surgery would be the treatment of choice with a better cure rate and maximal conservation of tissue. When surgery is insufficient, clinical evidence has suggested that imatinib mesylate is a safe and effective treatment in DFSP, especially in cases of local advanced or metastatic disease. This article presents an overview of the state of the art in the clinicopathological management of this disease.

Atrophic dermatofibrosarcoma protuberans: report of a case demonstrated by detecting COL1A1-PDGFB rearrangement

Dermatofibrosarcoma protuberans is a locally aggressive mesenchymal neoplasm. It usually presents as an indurated plaque that protrudes above the surface of the skin. Some patients have clinically persistent plaques that might be atrophic. The atrophic variant of dermatofibrosarcoma protuberans may be confused with some common skin diseases with atrophic appearance. We reported a 40-year-old woman who had a 10-year history of an atrophic dermatofibrosarcoma protuberans. Molecular analysis showed a fusion between COL1A1 exon 31 to exon 2 of PDGFB. The lesion was totally excised, with negative margins of the resection demonstrated by CD34 immunostaining. To our knowledge, this is the second case of atrophic dermatofibrosarcoma protuberans confirmed by detection of COL1A1-PDGFB fusion gene. This appears to be the first report of a fusion between COL1A1 exon 31 to exon 2 of PDGFB in atrophic dermatofibrosarcoma protuberans.Virtual slidesThe virtual slides for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1249657688795311

Atrophic dermatofibrosarcoma protuberans

Dermatofibrosarcoma protuberans (DFSP) is an uncommon malignant mesenchymal tumor that arises in the dermis and is characterised by latency in its initial detection. As a rare form, atrophic or morphea-like DFSP has been documented. Atrophic DFSP resemble other benign lesions such as morphea, idiopathic atrophoderma, atrophic scar, anetoderma or lipoatrophy. It behaves like classic DFSP. It commonly favours young to middle aged adults. It has a slow infiltrative growth and a high rate of local recurrence if not completely excised. Metastases are rare and occur after repeated local recurrence. Surgical excision is the best line of treatment. Long term follow up is required to detect recurrence. We report a case of atrophic DFSP in a 52-year-old female patient. Diagnosis was achieved according to clinical, histopathological and immunohistochemical findings. Tumor was surgically excised with safety margin and the patient is still under follow up. Atrophic DFSP is a rare variant of DFSP. It is a tumor of low to moderate grade malignancy. Surgical excision is the best line of management. Long term follow up is necessary.

Atrophic dermatofibrosarcoma protuberans and enlargement with pregnancy: Case report and literature review

Dermatofibrosarcoma protuberans (DFSPs) are a slowly growing locally aggressive tumor of disputed histogenesis with low-grade malignancy and a marked tendency to local recurrence but rarely metastasize to distant sites. Few reports have suggested that DFSPs may enlarge more rapidly during pregnancy. This article describes a lesion of the atrophic variant of DFSP that increased in size during pregnancy which is an unusual presentation, and a review of the literature.

Atrophic dermatofibrosarcoma protuberans:2 case report

Two cases of atrophic dermatofibrosarcoma protuberans (DFSP) are reported.The patients were a 16-year-old and a 24-year-old boy with a clinical course of 6 and 5 years respectively.The lesions began as well-marginated atrophic erythema,and subcutaneous nodules appeared gradually on the erythema.Histopathology showed atrophic or normal epidermis,wavy arrangement of tumor (spindle) cells in the superficial dermis which was aligned parallel to the epidermis,storiform arrangement of tumor cells in the lower dennis,and typical lacelike pattern of infiltration of subcutaneous fat tissue with tumor cells.Immunohistochemistry showed that the tumor cells stained positive for vimentin and CD34,but negative for S100 or CD 68. Key words: Dermatofibrosarcoma; Case reports[Publication type]

Medallion-Like Dermal Dendrocyte Hamartoma: A Case Misdiagnosed as Neurofibroma

Medallion-like dermal dendrocyte hamartoma is a rare congenital lesion, comprised of a benign dermal proliferation of fusiform cells that stain positive for CD34, often positive for factor XIIIa, and negative for S100. It has a highly characteristic clinical presentation consisting of a well-circumscribed atrophic and wrinkled patch located on the upper trunk or neck that remains stable with time. We report a case of an 11-year-old boy with a typical medallion-like dermal dendrocyte hamartoma on the nape of the neck that was previously misdiagnosed as neurofibroma on the basis of initial histological examination that was later reevaluated due to lack of clinical correlation. Three previously-reported cases of medallion-like dermal dendrocyte hamartoma also have had a previous histological misdiagnosis of probable neurofibroma; other reported cases have been misdiagnosed as congenital atrophic dermatofibrosarcoma protuberans. Clinical correlation and immunostaining are particularly important for the recognition of this rare benign lesion.

Congenital Atrophic Dermatofibrosarcoma Protuberans in a 7‐Month‐Old Boy Treated with Mohs Micrographic Surgery

Dermatofibrosarcoma protuberans is a rare, malignant, slow-growing, locally invasive tumor of the skin. Although most cases are acquired and diagnosed in adulthood, there have been an increasing number of congenital dermatofibrosarcoma protuberans mimicking benign birthmarks described in the literature. The clinical presentation of this tumor is often one of an indurated exophytic plaque or nodule; however, a rare variant can present as atrophic or sclerotic in nature. We report a case of congenital atrophic dermatofibrosarcoma protuberans of the groin in a 7-month-old boy, successfully treated with Mohs micrographic surgery.

Atrophic dermatofibrosarcoma protuberans with the fusion gene COL1A1‐PDGFB

Atrophic dermatofibrosarcoma protuberans with the fusion gene <i>COL1A1‐PDGFB</i>

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.

Dermatofibrosarcome atrophique multifocal à début pédiatrique

Atrophic dermatofibrosarcoma is a rare clinical variant of dermatofibrosarcoma protuberans (or Darier-Ferrand tumor) preferentially observed in childhood and early adulthood. We report a case of multifocal atrophic dermatofibrosarcoma protuberans of childhood onset only diagnosed when the patient was 29 years old. The clinical presentation was an asymptomatic macular brown plaque on the right thigh measuring 10 cm. Initially, because of the large size of the lesion, treatment consisted of limited surgical excision. Diagnosis of the atrophic variant of dermatofibrosarcoma in childhood is difficult, and is usually made several years later in early adulthood because of its slow development, lack of symptoms and generally benign appearance. Histological tests and immunohistochemical staining may confirm clinically suspected diagnosis, and in complex cases, cytogenetic studies can help confirm a diagnosis of dermatofibrosarcoma through detection of reciprocal translocation t (17,22), which fuses collagen type Ialpha1 (COLIA1) and platelet-derived growth factor (PDGDFbeta), and which is highly characteristic of dermatofibrosarcoma protuberans. Conventional treatment of dermatofibrosarcoma protuberans consists of extensive surgical excision, but Mohs micrographic surgery is also advocated for removal of certain dermatofibrosarcoma protuberans, while use of tyrosine kinase PDGF receptor inhibitors such as imatinib mesylate (Glivec) is limited to distant metastases.

Atrophic dermatofibrosarcoma protuberans

A 48-year-old woman presented with a 20-year history of an asymptomatic depressed atrophic plaque on the abdomen. Five years earlier a punch biopsy of the same lesion had been carried out and a diagnosis of dermatofibroma was made. She was reassured and discharged. Further consultation was sought due to extension and thickening of the lesion. Re-examination of the initial and new incisional biopsy specimens, along with histochemical staining for CD34, established the diagnosis of atrophic dermatofibrosarcoma protuberans. A wide local excision was carried out. There has been no recurrence at 9 months of follow up.