Undifferentiated pleomorphic sarcoma of the breast with neoplastic fever: case report and genomic characterization.

PURPOSE: Primary breast sarcomas are extraordinary rare, in particular undifferentiated pleomorphic sarcoma (UPS). UPS with neoplastic fever (UPS-NF) of the breast has not been reported yet. Here, we present an extended UPS-NF of the breast including its comprehensive molecular workup. METHODS: A 58-year-old female presented with general malaise, fever spikes, weight loss, and a massively swollen left breast. C-reactive protein and blood leucocytes were significantly increased. However, repeated blood cultures and smears were all sterile. Histopathology of the abscess-forming tumor revealed an undifferentiated malignancy with numerous of tumor giant cells as well as spindle-shaped cells with nuclear pleomorphism and hyperchromasia. Immunohistochemistry demonstrated partial, patchy desmin staining and weak heterogonous neuron-specific enolase immunoreactivity of tumor cells, but a focal staining for Melan-A. RESULTS: Neither common melanoma driver mutations nor an ultraviolet mutational signature was detected by whole genome sequencing. Using FISH and RT-PCR we also excluded translocations characteristic for clear cell sarcoma. Thus, the diagnosis of inflammatory UPS-NF of the breast was considered highly probable. Despite a complete mastectomy, the tumor recurred after only three months. This recurrence was treated with a combination of ipilimumab and nivolumab based on the primary tumor's TPS score for PD-L1 of 30%. After an initial response, however, the tumor was progressive again. CONCLUSION: We describe here the first case of UPS-NF of the breast, which shows great clinical and histopathologic resemblances to previously reported UPS-NF of other anatomic localizations.

Antibody-Negative Paraneoplastic Autoimmune Multiorgan Syndrome (PAMS) in a Patient with Follicular Lymphoma Accompanied by an Excess of Peripheral Blood CD8+ Lymphocytes.

Paraneoplastic autoimmune multiorgan syndrome (PAMS) is a life-threatening autoimmune disease associated with malignancies. Here, we present a patient initially misdiagnosed with "chronic" Stevens-Johnson syndrome. Over a year later, the patient was diagnosed with stage IV follicular lymphoma and treated with an anti-CD20 antibody. At this time, his skin condition had significantly worsened, with erythroderma and massive mucosal involvement, including in the mouth, nose, eyes, and genital region. Histopathology revealed lichenoid infiltrates with interface dermatitis, dyskeratoses, necrotic keratinocytes, and a dense CD8+ infiltrate with strong epidermotropism. Direct and indirect immunofluorescence tests for autoantibodies were negative. Remarkably, we retrospectively discovered a chronic increase in peripheral CD8+ lymphocytes, persisting for over a year. Consequently, the patient was diagnosed with antibody-negative PAMS. Three weeks later, he succumbed to respiratory failure. This dramatic case highlights the challenges in diagnosing PAMS, particularly in cases where immunofluorescence assays are negative. Importantly, we observed, for the first time, a chronic excess of CD8+ peripheral blood lymphocytes, associated with PAMS, consistent with the systemic, autoreactive T-cell-driven processes that characterize this condition.

Sarcoidal immune reaction following SARS-CoV-2 vaccination.

Vaccination against the SARS-CoV-2 virus is a milestone in combating the current pandemic. Nevertheless, there is increasing evidence that COVID-19 vaccination also may trigger immune- or autoimmune-mediated skin diseases. We here report the association of COVID-19 vaccination with sarcoidal immune reaction.

Early intervention with high-dose steroid pulse therapy prolongs disease-free interval of severe alopecia areata: a retrospective study.

BACKGROUND: Spontaneous recovery of severe alopecia areata is rare and the condition is difficult to treat. OBJECTIVE: The aim of this study is to investigate and compare the effects and safety of steroid pulse therapy between oral and intravenous administrations between 1999 and 2010 at the Department of Dermatology, National Cheng Kung University Hospital. METHODS: Data were retrospectively retrieved. A satisfactory response was defined as more than 75% hair regrowth in the balding area. RESULTS: A total of 85 patients with more than 50% hair loss were identified and treated, with an overall satisfactory response rate of 51.8%. The mean follow-up time was 37.6 months, with a relapse rate of 22.7%. Patients with alopecia areata (hereafter, AA) of recent onset within one year showed higher response rates (p<0.001) and lower relapse rates compared to patients with AA persisting for more than 1 year. Further, even in patients with alopecia totalis, alopecia universalis or ophiasis type, early treatment resulted in a satisfactory response rate of 47% among the treated patients. In general, oral therapy was as effective and well-tolerated as intravenous therapy. CONCLUSION: The response rate is determined by disease severity and time of intervention, not by the administration form of steroid pulse therapy. Oral steroid pulse therapy can be considered as the first-line treatment for patients with severe AA of recent onset within one year.

Naevus anaemicus-like hypopigmented macules in dyskeratosis congenita.

In the present paper we report on a Taiwanese case of X-linked recessive dyskeratosis congenita (DC), confirmed by detection of a 214 C→T mutation in the DKC1 gene, and provide a detailed description of mottled pigmentary changes of the skin, specifically numerous small, whitish macules dispersed against a background of diffuse, finely reticulated hyperpigmentation. The hypopigmented macules showed no discernible erythema upon rubbing or the local application of heat. The naevus anaemicus-like macules may be a relatively common but under-recognized feature in DC. More studies are required to determine the incidence and histopathology of these macules.

Recurrent factitious subcutaneous emphysema: report of a complex case in a young woman and a literature review.

Subcutaneous emphysema (SE) can be caused by antecedent trauma, surgery, rupture of visceral organs or serious infection from gas-forming microorganisms. Factitious SE is very rare; only about a dozen cases have been reported. Most patients had an underlying psychiatric condition or relevant history. The diagnosis and management of factitious SE are challenging. We report a new case of factitious SE with a very complex clinical course. A 29-year-old woman was seen at consultation for recurrent attacks of painful soft tissue swelling, affecting her chest wall, abdomen and neck over several months. Factitious disease was suspected because of the negative medical history of identifiable visceral perforations or gas-forming infections and the presence of multiple bizarre linear scars on the arm. This was supported by finding multiple recent puncture marks on the neck, chest and upper extremities on close inspection. The patient's history was remarkable for multiple stressful events in her life, frequent job changes, substance abuse and suicide attempts. Psychiatric evaluation revealed adjustment disorder with depression and anxiety, cluster B personality with bipolar II disorder and substance abuse. During the 1-year period, she had 20 visits to our ER for attacks of SE affecting various parts of her body. This case illustrates that self-infliction should be suspected in a patient presenting with medically unexplained recurrent SE and a hollow history, and one should search for puncture marks to support the diagnosis.

Eosinophilic cellulitis and panniculitis with generalized vesicular pustular id reaction after a molten aluminum burn.

Hypersensitivity reactions to aluminum are rare. Sensitization has been reported during the continuous application of aluminum-containing antiperspirants or after the injection of aluminum-adsorbed vaccines and allergen extracts containing aluminum. We report a rare case of a nonhealing ulcer at the site of an accidental molten aluminum burn that showed changes of eosinophilic cellulitis and panniculitis histologically. This process was followed by a generalized vesicular and pustular id reaction. The reactions resolved after 1 month of systemic corticosteroid therapy. Two months later, there was a relapse with bullae over the burn scar, accompanied by a pruritic oozing rash on the ears and face; the lesions were controlled again with systemic corticosteroid treatment. The clinicopathologic features suggest that the eosinophilic cellulitis with panniculitis and id reaction in the present case represents an unusual allergic reaction to aluminum. Aluminum allergy may be considered as a possible underlying process in the setting of eosinophilic cellulitis with panniculitis and id reaction.