Publications by authors named "Alejandro Gru"

Granulomatous vasculitis represents a rare cutaneous manifestation of sarcoidosis, a multisystem disease characterized by noncaseating granulomas. We report the case of a 28-year-old woman with new-onset tender, nonpruritic, erythematous papules coalescing into plaques and subcutaneous nodules on her lower legs, accompanied by anterior uveitis, exertional dyspnea, and constitutional symptoms including fatigue and night sweats. Punch biopsy revealed non-necrotizing epithelioid granulomas with vasculitic changes, consistent with cutaneous sarcoidal granulomatous vasculitis.

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Background: In recent classifications several cutaneous lymphomas were reclassified as lymphoproliferative disorder (LPD). These include primary cutaneous CD4-positive small/medium T-cell LPD (PCSM-TCLPD), primary cutaneous acral CD8+ T-cell LPD (acral CD8+ TLPD) and primary cutaneous marginal zone LPD (PCMZLPD; still classified as primary cutaneous marginal zone lymphoma (PCMZL) in the 5th edition of the WHO classification). The results of a survey among 30 cutaneous lymphoma centres on the effects of this new terminology on clinical management revealed considerable heterogeneity and emphasized the need to develop uniform recommendations for management and treatment of these disorders.

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Advanced mycosis fungoides (MF) and Sézary syndrome (SS) have a poor prognosis with overall survival <5 years. Studies have found the current clinical staging (IA-IVB) inadequate for risk stratification. Developing a prognostic index in MF/SS will identify patients with poor outcomes and may allow better management decisions and improved survival.

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Cutaneous plasmacytosis has <60 cases worldwide, typically characterized by multiple asymmetric facial and truncal cutaneous nodules and plaques. We describe the case of a 68-year-old woman with erythematous plaques on the feet who had a biopsy showing primary cutaneous plasmacytosis and subsequent workup revealing celiac disease. Our patient's clinical presentation of symmetric plaques on the dorsal feet is previously unreported.

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With alopecia affecting millions globally, recent advancements in the understanding of hair follicle biology have driven the development of novel therapies focused on hair regrowth. This review discusses two emerging therapeutic strategies: hair follicle neogenesis and the modulation of the Wnt/B-catenin signaling pathway. Hair follicle neogenesis, a frontier once considered impossible to achieve in adult humans, has recently gained traction due to advancements in stem cell biology and further understanding of the epithelial-mesenchymal interactions that are critical to hair follicle development.

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Mastocytosis is characterized by the clonal infiltration and proliferation of neoplastic mast cells into target organs. Clinical features of mastocytosis are based in large part on dysregulated mast cell mediator release. Affected individuals may present with isolated skin involvement or multisystemic disease with a spectrum of symptoms including anaphylaxis, pathologic fractures, and chronic gastrointestinal, neurocognitive, musculoskeletal, and constitutional symptoms.

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Localized skin necrosis after bee and wasp stings is an exceptionally rare phenomenon, with few reported cases documented in the literature. Hymenoptera stings, including those from wasps, bees, and stinging ants, are common worldwide and typically result in localized reactions such as pain, erythema, and swelling. Although systemic complications, including anaphylaxis and multiorgan damage, are well recognized, localized skin necrosis remains poorly understood.

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Concomitant squamous cell carcinoma (SCC) and mycosis fungoides (MF) within the same lesion are exceedingly rare, with only 3 cases previously reported. Cutaneous T-cell lymphoma (CTCL) predisposes patients to malignancies because of immune dysregulation, and treatments such as narrow-band ultraviolet-B phototherapy increase carcinogenic risk. We describe a 78-year-old man with stage IVA1 CTCL who presented with a scaly, painful tumor on his left temple.

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Background: Primary cutaneous anaplastic large cell lymphoma (pcALCL) and lymphomatoid papulosis (LyP) are indolent CD30-positive lymphoproliferative disorders that rarely express TCR-γδ. However, primary cutaneous gamma-delta T-cell lymphoma (pcGDTCL), characterized by TCR-γδ expression on neoplastic cells, is a rare, aggressive cutaneous T-cell lymphoma with a poor prognosis. Accurate differentiation is essential due to distinct clinical behavior and treatment.

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Introduction: Mycosis fungoides (MF) and Sézary syndrome (SS) are the most common subtypes of cutaneous T-cell lymphoma. While MF generally follows an indolent course, a subset of patients will experience progressive and/or treatment-refractory disease. SS is an aggressive cutaneous T-cell lymphoma associated with high morbidity and mortality secondary to immune compromise and opportunistic infection.

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Aims: Primary cutaneous sarcomatoid squamous cell carcinoma (PCSSCC) is an uncommon variant of squamous cell carcinoma. Histologically, these tumours are composed of deeply infiltrative spindled and pleomorphic cells arranged in fascicles or cohesive nests and usually lacking keratinisation. Its distinction from other malignant spindle cell lesions is a difficult task that requires ancillary immunohistochemical studies to make a definitive diagnosis.

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Melanoma, an aggressive skin cancer, presents significant therapeutic challenges. Consequently, innovative treatment strategies beyond conventional chemotherapy, radiation, and surgery are actively explored. This review discusses the evolution of immunotherapy in advanced melanoma, highlighting PD-1/PD-L1 inhibitors, mRNA vaccines, Talimogene Laherparepvec (T-VEC), and tumor-infiltrating lymphocyte (TIL) therapies.

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Malignant tenosynovial giant cell tumor (MTGCT) is a rare and aggressive variant of tenosynovial giant cell tumors, with fewer than 60 reported cases. Although typically localized to joints and soft tissues, cutaneous presentations of MTGCT are exceedingly rare, with only a handful of documented cases involving direct dermal invasion. Here we report the case of an 88-year-old man with a history of nonmelanoma skin cancers who presented with a friable, ulcerated 2.

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Primary cutaneous amoebiasis is rare, and typically affects immunocompromised patients and presents with unique clinical and histopathologic changes. Untreated, the infection could progress to involve the central nervous system, which is almost universally fatal. We present a case of primary cutaneous acanthamoebiasis in a patient with chronic lymphocytic leukemia on acalabrutinib.

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Primary effusion lymphoma (PEL) is a rare and aggressive B-cell lymphoma typically associated with human herpesvirus 8 (HHV-8) and Epstein-Barr virus infections. It classically presents as a malignant effusion in body cavities, but rarely presents with an extracavitary variant characterized by solid tumors in lymph nodes or extranodal sites such as the gastrointestinal tract, skin, lungs, and nervous system. This case report describes an unusual presentation of primary cutaneous extracavitary PEL in an HIV-positive patient that has only been reported in 8 cases previously.

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Acute myeloid leukemia is a cancer involving uncontrolled proliferation of hematopoietic cells. Cutaneous involvement is referred to as leukemia cutis (LC). The histopathologic presentation of LC is variable, and may present with perivascular, periadnexal, dermal, or subcutaneous infiltrate.

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Article Synopsis
  • * A study compared 17 desmoplastic melanomas (including 5 NFLDM cases) with 53 neurofibromas to identify distinguishing features and the role of molecular testing in diagnosis.
  • * Key differences include the presence of lymphoid aggregates and specific vascular structures in neurofibromas that are absent in NFLDM, along with molecular testing revealing genetic abnormalities linked to melanoma.
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Aims: BRCA1-associaed protein-1 (BAP1) inactivated tumours (BIMT) are rare melanocytic tumours that may be mistaken for Spitz tumours or melanoma. They occur sporadically or in association with the BAP1 tumour predisposition syndrome (BAP1-TPDS), which may be complicated by uveal or cutaneous melanoma, mesothelioma, basal cell carcinoma and renal cell carcinoma. The aim of this study was to characterise the clinicopathological features and the immunohistochemical expression pattern of preferentially expressed antigen in melanoma (PRAME) of BIMT in a large patient cohort.

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Article Synopsis
  • Primary cutaneous sarcomatoid squamous cell carcinoma (PCSSCC) can be difficult to diagnose due to its similarities with other spindle cell tumors and atypical expressions of markers like smooth muscle actin (SMA).
  • A study of 16 cases showed that these tumors were high-grade and typically involved deeper skin layers, with most cases exhibiting atypical spindle and epithelioid cell patterns.
  • The research highlights the importance of using multiple epithelial markers for accurate diagnosis, while also noting that SMA expression can complicate the identification process.
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Article Synopsis
  • - The most common types of liposarcomas are well-differentiated and dedifferentiated liposarcomas, usually found in the deep retroperitoneum or extremities, while atypical lipomatous tumors (ALT) are rare and less studied when located superficially.
  • - A case study of a 54-year-old man revealed an ALT on his left upper back that had unusual characteristics, including significant pleomorphism and specific gene amplifications, which sets it apart from typical ALT cases reported.
  • - The report discusses the diagnostic process and histopathological findings of the tumor, while providing an overview of different liposarcoma subtypes and management strategies.
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Dermatologic manifestations of cystic fibrosis (CF) include nutrient deficiency dermatoses, vasculitis, transient reactive papulotranslucent acrokeratodema, digital clubbing, and increased rates of atopy and drug reactions. Few cases of a characteristic eruption in patients with episodic arthritis of CF have been described with prior reports primarily occurring outside of the dermatology literature. We report four cases consistent with this presentation to add to the literature and propose a new and unifying name to recognize this entity as cystic fibrosis dermatitis arthritis syndrome (CF-DAS).

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Adult T-cell leukemia-lymphoma (ATLL) is an aggressive malignancy driven by human T-cell leukemia virus type 1 (HTLV-1). Although patients from the Western hemisphere (Afro-Caribbean and South American) face worse prognoses, our understanding of ATLL molecular drivers derives mostly from Japanese studies. We performed multi-omic analyses to elucidate the genomic landscape of ATLL in Western cohorts.

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