Multiple dermatofibromas in a patient with Ehlers-Danlos syndrome: a case report.

BACKGROUND: Dermatofibromas, also known as benign fibrous histiocytomas, are among the most common cutaneous soft-tissue lesions. Association of multiple dermatofibromas with some diseases was described and it has not been reported with Ehlers-Danlos syndrome before. We present a case with Ehlers-Danlos syndrome and multiple dermatofibromas. CASE PRESENTATION: An 18-year-old Iranian woman presented with multiple purple nodules ranging from 0.5 to 1.5 cm in diameter, which were mobile and located on the proximal part of the lower limb. The dimple sign of these lesions was positive. During the physical examination, several features suggestive of Ehlers-Danlos syndrome were observed, including hyperextensibility and fragility of the skin, wide atrophic scars on the upper limb, hypermobility of joints and fingers, swan neck deformities of the digits, nodules on the knee, and striae alba on the leg. The patient was previously unaware of having Ehlers-Danlos syndrome. She had a history of asthma and atopic dermatitis. Family history was negative. A biopsy of the nodular lesions was performed, and the findings confirmed the diagnosis of dermatofibromas. CONCLUSION: We describe a patient with Ehlers-Danlos Syndrome who presented with multiple dermatofibromas. To our knowledge, this combination of findings is a previously unreported occurrence.

Intracerebral benign fibrous histiocytoma.

Benign fibrous histiocytoma (BFH) within the intracerebral region is remarkably rare. Our report details 2 cases of unusual BFH instances that exhibit no adhesion to the dura mater or cerebral falx, accompanied by a comprehensive literature review. While magnetic resonance imaging demonstrates specific characteristics for BFH, it does not readily differentiate BFH from more common brain neoplasms like gliomas and metastatic tumors. The definitive diagnosis of BFH depends primarily on histopathological and immunohistochemical examinations. Total surgical resection is considered an efficacious therapeutic approach, emphasizing the necessity for prolonged postoperative surveillance to detect any potential tumor recurrence or metastasis.

Giant thigh hemosiderotic/aneurysmal dermatofibroma: Case report with radiologic-pathologic correlation.

Hemosiderotic/aneurysmal variant of dermatofibroma (DF) is infrequent and may be misdiagnosed with malignant lesions. We report the case of a giant (7.6cm) subcutaneous hemosiderotic/aneurysmal DF (H/ADF) of the thigh in a 53-year-old female patient. Internal arterial and venous hypervascularity was seen by spectral Doppler ultrasound. Magnetic resonance image showed a discrete homogeneous hypointense in T1-weighted images (WI) and T2-WI mass, with hyperintense areas in fat-suppressed T2-WI. The histology revealed a monotonous fusocelular proliferation without atypia, positive for CD163, factor XIIIa and CD10. Widely distributed hemosiderin pigment and two blood-filled pseudovascular spaces lacking endothelial lining were present. H/ADF was diagnosed. The mass was removed but surgical margins were affected. The patient did not present local relapse or distant metastasis. H/ADF are unusual cutaneous soft tissue tumours that can be clinically, radiologically and histopathologically confused with malignant lesions such as melanomas, vascular lesions or sarcomas, especially in giant cases.

Dermatofibromas on the Foot and Ankle: A Clinicopathologic Characterization of 31 Cases.

BACKGROUND: Dermatofibroma (DF) is a common benign soft-tissue tumor. It occurs anywhere on the body but is commonly seen on the upper and lower extremities. It is frequently found in young to middle-aged adults and predominantly in females. METHODS: Thirty-one patients with DF on the foot and ankle diagnosed and treated during a 6-year period were characterized. RESULTS: The patients (16 males, 15 females) were aged 7 to 75 years (average, 55 years). Clinically, 17 patients noted painful symptoms, and 14 were painless. Grossly, DF manifested as a raised red, pink, tan, or skin-colored soft mass. The tumor size ranged from 0.3 to 1.5 cm (average, 0.67 cm in diameter). Twenty-six DFs (84%) were localized on the dorsal surface of the foot and ankle, and five (16%) were found on the plantar aspect. Eighteen patients were treated by surgical excision of the tumor (>0.5 cm), and 13 patients had observational follow-up after punch biopsy due to the small size (≤0.5 cm) and benign nature of these lesions. Further follow-up found that only one patient (3.2%) had a local recurrence, 37 months after surgical excision, which was completely reexcised. Histologically, DF is characterized by proliferation of spindle fibroblasts and histiocytes, in a vague fascicular pattern, and thickened collagen bundles. CONCLUSIONS: Dermatofibroma on the foot and ankle predominantly occurs in patients in their 50s, without a preponderance by sex. It needs to be differentiated from other benign and malignant tumors with histologic analysis and immunostaining with factor XIIIa, CD68, and other biomarkers. Treatment options include either surgical excision or observational follow-up after biopsy, depending on the clinical characteristics and effect on functional activity.

Sclerosing Hemangioma of the Liver. Unusual and Benign Hepatic Neoplasm / Hemangioma Esclerosante del Hígado. Neoplasia Hepática Inusual y Benigna

SUMMARY: Hemangiomas are the most common non-cystic benign liver tumors. Typically, they are incidentally discovered through routine radiological imaging. These tumors can become complicated and develop fibrosis, with the extreme presentation being hepatic sclerosing hemangioma (HSH), a very rare, atypical benign tumor. Initial diagnosis of HSH is often erroneous, as it can be confused with primary or secondary malignant liver neoplasms. Consequently, HSH are frequently resected, and the diagnosis is confirmed through histological and immunohistochemical studies of the resected specimen. The aim of this manuscript was to report a surgically treated case of HSH and review the existing evidence regarding its clinical and morphological characteristics. The case of a 79-year-old male patient, who underwent surgical intervention for HSH at RedSalud Mayor Temuco Clinic in October 2023, was examined. A solid tumor situated Segment VI, measuring 4 cm in its largest dimension was identified. MRI demonstrated a mass with low-signal intensity mass on T1-weighted images and areas of high-signal intensity on T2-weighted images and a hypointense mass in the hepatobiliary phase. The tumor was completely excised. Subsequent to histopathological analysis, immunohistochemical staining was performed for WT1, CD31, ERG, CD34, and Pancitoqueratina AE3 & AE1. The patient experienced an uneventful postoperative course and was discharged on the third day after the surgery. During follow-up assessments, the patient's overall condition remains satisfactory. HSH is an exceedingly rare tumor. Clinical features and imaging findings associated with this type of lesion are non-specific. It should be included in the differential diagnosis of solid liver lesions. Complete surgical resection with clear margins is the treatment of choice, and it prognosis is favorable.

Los hemangiomas son los tumores hepáticos no quísticos benignos más comunes. Lo habitual es que se descubran de forma incidental con imágenes radiológicas de rutina. Estos pueden complicarse y desarrollar fibrosis, cuya presentación extrema es el hemangioma esclerosante hepático (HEH); un tumor benigno atípico muy poco frecuente, cuyo diagnóstico inicial suele ser erróneo, confundiéndose con neoplasias malignas primarias o secundarias del hígado. Por ello, es frecuente que sean resecadas y que el diagnóstico se establezca mediante estudios histológicos y de inmunohistoquímica del espécimen resecado. El objetivo de este manuscrito fue reportar un caso de HEH, que fue intervenido quirúrgicamente; y revisar la evidencia existente respecto de sus características morfológicas y clínicas. Caso clínico: Hombre de 79 años, con HEH intervenido quirúrgicamente en Clínica RedSalud Mayor Temuco en octubre de 2023. Se verificó un tumor sólido de 4 cm de diámetro mayor, localizado en el segmento VI del hígado. La resonancia magnética demostró una masa con baja intensidad de señal en T1 y áreas de alta intensidad de señal en T2. El tumor fue extirpado por completo. Después del estudio histopatológico, se realizaron tinciones inmunohistoquímicas complementarias para WT1, CD31, ERG, CD34 y Pancitoqueratina AE3 & AE1. El paciente tuvo un curso postoperatorio sin incidentes, siendo dado de alta al tercer día postoperatorio. En el control alejado, se encuentra en buenas condiciones generales. El HEH es un tumor muy poco frecuente. Las características clínicas e imágenes de este tipo de lesiones son inespecíficas. Debe de las lesiones sólidas del hígado. La resección considerarse en el diagnóstico diferencial quirúrgica completa con bordes libres es el tratamiento de elección; y su pronóstico es favorable.

Sclerosing angiomatoid nodular transformation of the spleen: Case reports and literature review.

RATIONALE: Sclerosing angiomatoid nodular transformation (SANT) of the spleen is an uncommon benign vascular lesion with an obscure etiology. It predominantly affects middle-aged women and presents with nonspecific clinical signs, making preoperative diagnosis challenging. The definitive diagnosis of SANT relies on pathological examination following splenectomy. This study aims to contribute to the understanding of SANT by presenting a case series and reviewing the literature to highlight the clinical presentation, diagnostic challenges, and treatment outcomes. PATIENT CONCERNS: In this retrospective study, we analyzed the clinical data of 3 patients with confirmed SANT admitted from November 2013 to October 2023. The cases include a 25-year-old male, a 15-year-old female, and a 39-year-old male, each with a splenic mass. DIAGNOSES AND INTERVENTIONS: All of the three cases were treated by laparoscopic splenectomy (LS). Pathological examination confirmed SANT in all cases. OUTCOMES: No recurrence or metastasis was observed during a 10-year follow-up for the first 2 cases, and the third case showed no abnormalities at 2 months postoperatively. Despite its rarity, SANT is a significant condition due to its potential for misdiagnosis and the importance of distinguishing it from malignant lesions. The study underscores the utility of LS as a safe and effective treatment option. LESSONS: SANT is a rare benign tumor of the spleen, and the preoperative diagnosis of whom is challenging. LS is a safe and effective treatment for SANT, with satisfactory surgical outcomes and favorable long-term prognosis on follow-up. The study contributes to the limited body of research on this rare condition and calls for larger studies to validate these findings and improve clinical management.

Metastasizing aneurysmal dermatofibroma initially diagnosed as angiosarcoma confirmed by CD63::PRKCD fusion gene detection with nanopore sequencing.

Dermatofibroma (DF) is a benign tumor that forms pedunculated lesions ranging in size from a few millimeters to 2 cm, usually affecting the extremities and trunks of young adults. Histopathologically, DF is characterized by the storiform proliferation of monomorphic fibroblast-like spindle cells. In addition to neoplastic cells, secondary elements such as foamy histiocytes, Touton-type giant cells, lymphoplasmacytes, and epidermal hyperplasia are characteristic histological features. Several histological variants, including atypical, cellular, aneurysmal, and lipidized variants, have been reported; cases with variant histologies are sometimes misdiagnosed as sarcomas. We present a case of metastasizing aneurysmal DF that was initially diagnosed as an angiosarcoma on biopsy. A 26-year-old woman was referred to our hospital with a gradually enlarging subcutaneous mass in her lower left leg. Positron emission tomography-computed tomography revealed high fluorodeoxyglucose uptake not only in the tumor but also in the left inguinal region. On biopsy, ERG and CD31-positive atypical spindle cells proliferated in slit-like spaces with extravasation, leading to the diagnosis of angiosarcoma. Histology of the wide-resection specimen was consistent with DF, and lymph node metastasis was also observed. Nanopore DNA sequencing detected CD63::PRKCD fusion and copy number gain, although CD63 was not included in the target region of adaptive sampling. This report highlights the importance of recognizing the unusual clinical, radiological, and pathological features of DF to avoid misdiagnosis, and the potential diagnostic utility of nanopore sequencer.

A Tale of Two Tumors: A Collision Tumor of Atypical Fibroxanthoma and Basal Cell Carcinoma.

ABSTRACT: A collision tumor is an infrequent phenomenon characterized by the presence of 2 histologically distinct tumor types (either benign or malignant) occurring within the same specific anatomical site. We describe a rare case of co-occurrence of basal cell carcinoma and atypical fibroxanthoma presenting as a single lesion on the scalp in a 76-year-old man. The lesion was clinically suspicious for basal cell carcinoma and biopsied. Histologic examination showed 2 distinct tumors, one with basaloid cells and the other one with pleomorphic spindle cells colliding and growing together. Immunohistochemical stains were crucial in establishing the diagnosis. This presentation is exceedingly rare and requires additional evaluation for diagnosis.

Recurrent benign fibrous histiocytoma of the bone benefits from denosumab followed by malignant transformation: a case report.

Benign fibrous histiocytoma of the bone (BFHB) is a rare mesenchymal tumor, representing less than 1% of all benign bone tumors. This controversial entity is characterized by a mixture of fibroblasts arranged in a storiform pattern, varying amounts of osteoclast-type giant cells and foamy macrophages. Curettage or simple resection is usually curative. However, it was reported that up to 11% of the patients suffer from relapse. Here, we report a case of malignant transformation of BFHB after long-lasting disease stabilization under denosumab therapy.

Sclerosing angiomatoid nodular transformation of spleen: A rare case report.

ABSTRACT: Sclerosing angiomatoid nodular transformation (SANT) is a reactive non-neoplastic, rare vascular lesion of the spleen. The histology shows multiple angiomatoid nodules surrounded by proliferative stroma. A 31-year-old lady presented with an abdominal mass for 6 months. Contrast-enhanced computed tomography (CECT) abdomen was suggestive of hemangiopericytoma/hemangioendothelioma. An open splenectomy was performed, and the resected specimen was sent for histopathology examination. The gross examination showed a bosselated mass present at the lower pole of the spleen measuring 8 × 8 cm with peripherally located coalescing red-brown nodules embedded in a dense fibrous stroma on the cut surface. On microscopy, multiple circumscribed angiomatoid nodules comprising irregular slit-like vascular channels lined by plump endothelial cells were seen embedded in dense sclerotic stroma. Because of the lack of specific diagnostic features, it is difficult to diagnose SANT clinically and radiologically. However, the typical histopathological findings are a clue in clinching the diagnosis.

Pediatric dermatofibromas: Truncal predominance in younger children.

Pediatric dermatofibromas are considered rare in young children and have not been well characterized, often misdiagnosed clinically. We performed a retrospective case series of children younger than 18 years with histopathologically diagnosed dermatofibromas at our institutions and evaluated age at onset and diagnosis, sex, lesion location, and size, associated symptoms, change over time, and pre-biopsy diagnosis. Overall, dermatofibromas were most common on the back and chest (20/53; 38%), followed by the legs (15/53; 28%) and arms (12/53; 23%) with the most common pre-biopsy diagnosis of "cyst" (23/53; 43%), followed by dermatofibroma (16/53; 30%), and pilomatricoma (12/53; 23%). Our study reinforces previous findings of truncal predominance of pediatric dermatofibromas, different from adults.

An Unusual Case of an ALK-Negative Epithelioid Fibrous Histiocytoma in the External Auditory Canal.

This article represents the first reported case in the external auditory canal of epithelioid fibrous histiocytoma (EFH), a rare benign cutaneous epithelioid neoplasm. Immunostaining revealed uncommon negative staining for anaplastic lymphoma kinase (ALK) expression. This case and literature review outline the diagnostic strategy for this highly unusual neoplasm. Laryngoscope, 134:3371-3373, 2024.

Recurrent and metastatic cellular cutaneous fibrous histiocytoma: A case report and literature review.

Cutaneous fibrous histiocytoma (FH) is considered a benign dermal tumor. The cellular variant is rare and poorly documented. Besides presenting a high risk of local recurrence, it has a low but serious metastatic potential. We present a case of metastatic cellular FH and also review the literature on this tumor, given its unusual metastatic development. A 47-year-old male patient presented with a lesion in the anterior surface of the right thigh, which has been present since adolescence but had grown during last year. Anatomopathological evaluation revealed a cellular FH, and the lesion was completely removed. Six months later, tumor recurrence with multiple compartment muscle involvement and pulmonary metastasis were detected. Both lesions were completely resected and after 3 years of follow-up, the patient is asymptomatic and free of the disease. We conclude that FH should be carefully sampled to detect variants with high local recurrence rates or with some metastatic risk such as the cellular one. We recommend wide surgical resection and a close follow-up including chest x-rays or thorax computed tomography (CT) in all cellular FH cases with local recurrence.

A study of collagen refractility in dermatofibroma and dermatofibrosarcoma protuberans using diffractive microscopy.

BACKGROUND: Diffractive microscopy creates contrast within samples that are otherwise uniform under bright light. This technique can highlight subtle differences in refractive indices within birefringent samples containing varying amounts of mature collagen. Dermatofibroma (DF) and dermatofibrosarcoma protuberans (DFSP) possess differences in their mature collagen content and, therefore, may be distinguishable using diffractive microscopy. METHODS: Two hundred forty-two DF and 85 DFSP hematoxylin-eosin (H&E)-stained specimens were analyzed using diffractive microscopy. Data regarding the distribution pattern and strength of refractility was recorded. RESULTS: DFSP was more frequently found to be focally, weakly, or non-refractile (82.9%; n = 68) under diffractive microscopy, while DF more often showed diffusely bright refractility (52.9%; n = 128). DFSP samples with diffuse refractility in portions of the lesion (17.1%; n = 14) also exhibited a unique checkerboard pattern distinct from that which was seen in DF samples. CONCLUSIONS: The absence of diffuse refractility was more closely associated with DFSP, as was the presence of a unique checkerboard diffraction pattern. Despite high sensitivity (Sn = 82.9%), absent refractility was not a specific test (Sp = 52.9%), with 47.1% (n = 114) of DF samples sharing this feature. The distinction between DF and DFSP is often diagnosed using H&E alone. In difficult cases, examination of collagen under diffractive microscopy may be useful in distinguishing DFSP from DF and provide an alternative cost-effective tool to immunohistochemical staining.

Sclerosing Angiomatoid Nodular Transformation of the Spleen: Radiological Findings and Radiological-pathological Correlation

Introduction: The objective of this study was to describe the CT and MRI features of sclerosing angiomatoid nodular transformation (SANT) of the spleen with pathologic correlation. Materials and Methods: Ten patients with surgically resected and pathologically confirmed SANTs were included. Clinical history was reviewed, and gross pathologic, histologic, and immunohistochemical findings were recorded. CT and MRI examinations were evaluated by two radiologists. Results: Patients included seven men and three women, with a mean age of 42.9±16.7 years. Pathologic features of SANTs involved multiple angiomatous nodules in a radiating pattern with a central stellate fibrous scar and evidence of hemosiderin deposition. 9 cases showed a lobulated demarcated margin, 8 cases a slight hypoattenuating, 1 isoattenuating, and 1 case with two lesions demonstrated a slight hyperattenuating margin, respectively. Multiple scattered punctate calcifications were involved in 2 cases. 5 cases manifested hypointensity on in-phase imaging, 1 iso-intensity, and 4 iso-hypointensity on out-of-phase imaging. Progressive and centripetal enhancement were exhibited in 10 cases, spoke-wheel pattern in 3 cases, and nodular enhancement in 4 cases, respectively. The central fibrous scar was identified in 8 cases during delayed enhancement. Conclusion: Characteristics of SANTs on CT/MRI reflected the underlying pathology. Hypointensity on DWI and T2WI, and change of signal on T1 chemicalshift imaging were found to be due to hemosiderin deposition and fibrous tissue. Typical feature was a solitary, round, lobulated mass with a fibrous scar. Progressive and centripetal enhancement, spoke-wheel pattern, nodular enhancement, and delayed enhancement of central fibrous scar were observed.

Epidermal inclusion cyst embedded in benign fibrous histiocytic lesion with prominent epithelioid morphology.

Benign fibrous histiocytoma also known as dermatofibroma is one of the common mesenchymal neoplasms. It commonly develops in young adult with female predominance and predilection for the extremities, particularly lower extremities. Implantation of epidermis in the dermis or subcutaneous tissues may lead to the formation of epidermal inclusion cyst, which is the most common type of epithelial cyst. Development of epidermal inclusion cyst within a benign fibrous histiocytoma is a rare occurrence. This is a unique case of two unrelated lesions.

Connexin 43 in Dermatofibroma and Dermatofibrosarcoma Protuberans: Diagnostic, Pathogenic, and Therapeutic Implications.

ABSTRACT: Connexins play a crucial role in the formation of gap junctions that connect cells to each other, as well as cells to the surrounding environment. In recent years, connexin 43 has been extensively studied in various human tumors. In this study, we conducted an immunohistochemical analysis to evaluate the expression of connexin in 16 dermatofibromas (DFs) and 13 dermatofibrosarcoma protuberans (DFSP). Connexin was diffusely expressed in the cytoplasm of all DFs with moderate or strong intensity, whereas all DFSPs showed negative staining. In addition to its diagnostic implications, the loss of Cx43 may elucidate the invasive capacity of DFSP and offer a potential avenue for future therapeutic interventions.