Dermatofibrosarcoma protuberans. A study of 148 patients.

INTRODUCTION: Dermatofibrosarcoma protuberans (DFSP) is the most common sarcoma of the skin. Although distant metastases are infrequent, DFSP is highly aggressive locally with frequent local recurrences. It has been reported that the presence within the tumour of areas histopathologically mimicking fibrosarcoma may increase the risk of recurrence. OBJECTIVE: To review the clinical features of our patients with DFSP and the factors associated with recurrence of the tumour, focusing on the presence of fibrosarcomatous areas. METHODS: Retrospective study of patients with DFSP diagnosed in 1990-2021 in a tertiary university hospital. The medical records were reviewed to obtain the following data: age, sex, tumour location, diameter, and evolution time, presence of fibrosarcomatous areas, development of recurrence, and follow-up. Factors possibly associated with disease-free survival were analyzed with Kaplan-Meier method and multivariate Cox regression. RESULTS: 148 patients (74 women/74 men, mean age 46.28 years, SD 14.431) were included in the study. Tumours involved head and neck in 15 cases, thorax in 31, abdomen in 16, upper back in 43, lower back in 10, upper extremities in 10, and lower extremities in 23. Fibrosarcoma-like areas were observed in 16 tumours (10.81%) . In 17 patients (11.49%) recurrences were observed (13 local recurrences, 3 lung metastasis, and 1 local recurrence with lung metastasis). Fibrosarcomatous DFSP recurred more frequently than classic DFSP (50% vs. 6.82%, respectively), and its disease free survival was significantly lower (p<0.001). In multivariate Cox regression the presence of fibrosarcomatous areas was the only factor influencing disease free survival. CONCLUSIONS: It is important to identify the fibrosarcomatous variant since it recurs more frequently and has lower recurrence-free survival. Distant metastases, mainly in the lung, are also more frequent in fibrosarcomatous DFSP.

Dermatomyositis in a donor and receptor of allogenic hematopoietic stem cell transplantation: Auto- or alloimmune disease?

We present the case of a 63-year-old woman who developed dermatomyositis after hematopoietic stem cell transplantation. Anti-melanoma differentiation-associated gene 5 (anti-MDA5) antibodies were positive and pulmonary involvement was severe and progressive. In addition, we also report that the patient's sister and donor also developed dermatomyositis. She had positive anti-PL7 antibodies and negative anti-MDA5 antibodies. The occurrence of autoimmune diseases after allogeneic hematopoietic stem cell transplantation is infrequent and difficult to interpret due to the reconstitution of the immune system and the multifactorial origin of most of these diseases. To our knowledge, this is the first described case of a hematopoietic progenitor transplant donor and recipient developing dermatomyositis. These findings make us wonder whether the dermatomyositis in this case is due to a shared genetic predisposition or to the donor's disease developing in the recipient.

Mastitis granulomatosa asociada a eritema nudoso: estudio de 42 casos / Granulomatous mastitis associated with erythema nodosum: A case series of 42 patients

Introducción:La mastitis granulomatosa (MG) se define por la presencia de inflamación granulomatosa en el tejido mamario. El eritema nudoso (EN) es una paniculitis inflamatoria reactiva caracterizada por nódulos subcutáneos dolorosos en las extremidades inferiores. La asociación entre MG y EN ha sido descrita, pero está poco estudiada. Nuestro objetivo fue analizar las características clínicas de las pacientes diagnosticadas de MG en nuestro centro y su asociación con EN.Métodos:Se revisaron retrospectivamente los casos diagnosticados histológicamente de MG entre 1995 y 2020.Resultados:Cuarenta y dos mujeres fueron diagnosticadas de MG. La edad media al diagnóstico fue de 41,619años y el 59,5% tenían ascendencia sudamericana. El EN se asoció con MG en el 11,9% de las pacientes. Las pacientes con EN fueron diagnosticadas precozmente respecto a aquellas con MG aislada (0,4meses frente a 6,81; p<0,05). La ulceración en la MG fue más prevalente en pacientes con EN asociado (60% vs 14,7%; p<0,05).Conclusión:El EN en pacientes con GM puede facilitar el diagnóstico precoz de esta rara condición que imita el cáncer de mama.(AU)

Background:Granulomatous mastitis (GM) is defined by the formation of granulomatous inflammation in breast tissue. Erythema nodosum (EN) is a reactive inflammatory panniculitis characterized by erythematous subcutaneous nodules in the lower limbs. The association of GM with EN has been rarely reported. Our aim was to retrospectively review our series of patients with GM to better characterize their features and their association with EN.Methods:Cases histologically diagnosed as granulomatous inflammation in breast tissue between 1995 and 2020 were retrospectively reviewed.Results:Forty-two women were diagnosed with GM. The average age at diagnosis was 41.619years, and 59.5% were of South-American ethnicity. EN was associated with GM in 11.9% of the patients. Patients with EN were diagnosed earlier than isolated GM (0.4months vs 6.81months; P<.05). Ulceration in the GM was more prevalent in patients with associated EN (60% vs 14.7%; P<.05).Conclusion:EN in patients with GM may reduce the evolution time and may help to diagnose this rare condition that mimics breast carcinoma. (AU)

[Granulomatous mastitis associated with erythema nodosum: A case series of 42 patients]. / Mastitis granulomatosa asociada a eritema nudoso: estudio de 42 casos.

BACKGROUND: Granulomatous mastitis (GM) is defined by the formation of granulomatous inflammation in breast tissue. Erythema nodosum (EN) is a reactive inflammatory panniculitis characterized by erythematous subcutaneous nodules in the lower limbs. The association of GM with EN has been rarely reported. Our aim was to retrospectively review our series of patients with GM to better characterize their features and their association with EN. METHODS: Cases histologically diagnosed as granulomatous inflammation in breast tissue between 1995 and 2020 were retrospectively reviewed. RESULTS: Forty-two women were diagnosed with GM. The average age at diagnosis was 41.619years, and 59.5% were of South-American ethnicity. EN was associated with GM in 11.9% of the patients. Patients with EN were diagnosed earlier than isolated GM (0.4months vs 6.81months; P<.05). Ulceration in the GM was more prevalent in patients with associated EN (60% vs 14.7%; P<.05). CONCLUSION: EN in patients with GM may reduce the evolution time and may help to diagnose this rare condition that mimics breast carcinoma.

Cutaneous Leiomyoma: A Clinical Study of 152 Patients.

BACKGROUND: Cutaneous leiomyoma (CL) is a benign smooth muscle tumour included in painful skin tumours. Multiple CLs are cutaneous markers of hereditary leiomyomatosis and renal cell cancer (HLRCC). OBJECTIVES: To retrospectively review our series of patients with CLs to analyse their clinical features and the association with HLRCC. METHODS: Cases coded as CL in the database of the pathology department between 2004 and 2019 were included in the study. Medical records were retrospectively reviewed to obtain the following data: age, sex, location, number of lesions, diameter, evolution time at diagnosis, suspected clinical diagnosis, tenderness, status of resection margins, development of recurrence, follow-up time, and association with HLRCC. RESULTS: 152 patients had CLs, 89 women and 63 men, mean age 56.26, SD 16.030 years. Subtypes were piloleiomyoma in 62 patients, angioleiomyoma in 80, and genital leiomyoma in 10. All of our 11 patients with multiple lesions corresponded to piloleiomyomas, and HLRCC was confirmed in 8 of them (73%). Patients with HLRCC were younger than patients with piloleiomyomas without HLRCC (34.88 vs. 56.17 years, p = 0.009). Vascular and genital leiomyomyomas were solitary and were not associated with HLRCC. CONCLUSION: In patients with multiple piloleiomyomas HLRCC must be ruled out as it is confirmed in a high proportion of cases. The probability of fumarate hydratase mutation is greater in multiple piloleiomyomas involving both the trunk and upper extremities in the same patient.

Sarcoidosis Induced by Atezolizumab Presenting With Xanthelasma Infiltration.

ABSTRACT: Sarcoidosis induced by anti-PD1 or anti-PDL1 agents such as atezolizumab has recently been reported. It has been suggested that the predilection of sarcoidosis to affect scars is due to the presence of antigens or foreign bodies that can serve as a stimulus for granuloma formation. However, to the best of our knowledge, sarcoidosis-specific skin lesions have not to date been reported involving xanthelasma. We report a patient who developed specific lesions of sarcoidosis infiltrating some xanthelasmata 6 months after starting treatment with atezolizumab. A 69-year-old woman was referred to the dermatology department for infiltration of xanthelasmata. The patient was being treated with atezolizumab for metastatic uterine carcinosarcoma. Cutaneous biopsy from an infiltrated xanthelasma and from still yellow, no infiltrated xanthelasma showed differing proportions of foamy histiocytes and sarcoid granulomas. On physical examination, erythemato-marronaceous papules clustered on both knees, and not previously detected by the patient, were observed. The biopsy showed sarcoid dermal granulomas with foreign bodies. A chest computerized tomography scan was consistent with intrathoracic involvement of sarcoidosis. Endobronchial ultrasound-guided transbronchial needle aspiration of a mediastinal lymphadenopathy showed epithelioid cell granulomas. Histopathologically, the foamy histiocytes of xanthelasma seem to be replaced by or evolve to epithelioid cells to form sarcoid granulomas. The possible pathogenic mechanism is discussed. Dermatologists and dermatopathologists should bear in mind that sarcoidosis can present as infiltration of pre-existing xanthelasmata.