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1.
Indian Dermatol Online J ; 15(5): 779-786, 2024.
Article in English | MEDLINE | ID: mdl-39359287

ABSTRACT

Background: There are no recent studies with a focus on the histopathology of erythema nodosum leprosum (ENL). Objectives: To describe the histopathological spectrum of ENL. Materials and Methods: Digital records from the pathology department were searched, and 125 slides were included. The histopathologic findings were recorded using a pre-designed proforma. Results: Several patterns were noted with the most common being a superficial and deep, perivascular and peri-appendageal, well-circumscribed dermal infiltrate that was seen in 70 (56.0%) biopsies. Other dermal patterns included a similar but loose infiltrate in 19 (15.2%) biopsies, diffuse dermal involvement in 9 (7.2%), top-heavy in 9 (7.2%), and bottom-heavy infiltrates in 12 (9.6%). Subcutaneous tissue was included in 107 biopsies. Extension of dermal infiltrates to the subcutis was noted in 71 (66.4%) biopsies and predominant involvement of the subcutis was noted in 6 (4.8%) biopsies, with lobular involvement in 60 (56.1%), septal involvement in 3 (2.8%), and septo-lobular involvement in 14 (13.1%). In 30 (28.0%) biopsies, the subcutaneous fat was uninvolved. The infiltrates contained neutrophils and foamy histiocytes in variable proportions, along with lymphocytes and plasma cells. Eosinophils were noted occasionally. Medium and/or small vessel vasculitis was noted in 11 (8.8%) biopsies. Fite-Faraco staining was available for 112 biopsies and revealed mainly fragmented and granular acid-fast bacilli (AFB) in 29 (25%) biopsies. Limitations: Our study had a retrospective design; we could not compare the lesional age and clinical characteristics of patients with the histological features. Conclusion: ENL is characterized by dermal infiltrates composed of foamy histiocytes and neutrophils in varying proportions arrayed in different dermal patterns. Extension of dermal infiltrates into the subcutis was frequent but absent in some. Predominant or exclusive involvement of the subcutis was rare. Vasculitis was noted in a small minority, while AFB were demonstrated in about a quarter of cases.

2.
Cureus ; 16(8): e67466, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39310601

ABSTRACT

Sweet's syndrome (SS), also known as acute febrile neutrophilic dermatosis, manifests as tender, erythematous skin lesions such as papules, nodules, and plaques that may appear vesicular or pustular. The condition is characterized by widespread infiltrates mainly consisting of mature neutrophils, usually in the upper dermis. Erythema nodosum (EN) is a form of septal panniculitis marked by tender, erythematous lesions primarily appearing on the lower legs. Additionally, subcutaneous Sweet's syndrome (SSS) is a rare variant of SS that mainly involves the subcutaneous adipose tissue. Skin lesions in SSS generally present as tender, erythematous subepidermal nodules on the extremities, morphologically resembling EN. Both EN and SS can present with fever, malaise, gastrointestinal disturbances, lymphadenopathy, arthralgia, increased white blood cell (WBC) count with neutrophilia, elevated C-reactive protein (CRP), and elevated erythrocyte sedimentation rate (ESR), making differentiation between them often challenging. Therefore, histopathologic evaluation is necessary for an accurate diagnosis. In our case, the patient exhibited a very painful plaque measuring 20 cm in diameter on the upper thigh without significant neutrophil infiltration in the dermis, but with subcutaneous septal neutrophil infiltration. Generally, SS shows stronger leukocytosis with neutrophilia than EN does. Considering the clinical symptoms, laboratory results, and clinical progression, the clinicopathological findings aligned more closely with SSS than EN. This article describes a rare case of SSS presenting with a single cutaneous lesion on the thigh, which mimicked the histopathological features of EN.

3.
Front Physiol ; 15: 1336908, 2024.
Article in English | MEDLINE | ID: mdl-39296517

ABSTRACT

Mesentery was discovered as a new organ in 2017. It is a continuous membranous tissue from the duodenojejunal flexure to the anorectal junction. It has distinct anatomy, physiology, and disease states. Primary mesenteropathies include vascular and non-vascular diseases. Some of them are common, and some of them are rarely seen in clinical practice. Secondary mesenteropathies occur when infection or malignancy in another organ spreads to the mesentery. Each entity has specific diagnostic and treatment protocols. Increased awareness of different mesenteropathies and an understanding of their various presentations at different stages of life can help in early diagnosis and improved clinical outcomes.

4.
Cancers (Basel) ; 16(17)2024 Sep 05.
Article in English | MEDLINE | ID: mdl-39272944

ABSTRACT

Although the vast majority of CTCL subtypes are of the CD4+ T-helper cell differentiation phenotype, there is a spectrum of CD8+ variants that manifest wide-ranging clinical, histologic, and phenotypic features that inform the classification of the disease. CD8, like CD4, and cytotoxic molecules (including TIA and granzyme) are readily detectable via IHC staining of tissue and, when expressed on the phenotypically abnormal T-cell population, can help distinguish specific CTCL subtypes. Nonetheless, given that the histopathologic differential for CD8+ lymphoproliferative disorders and lymphomas may range from very indolent lymphomatoid papulosis (LyP) to aggressive entities like CD8+ aggressive epidermotropic cytotoxic T-cell lymphoma (AECTCL), CD8 and/or cytotoxic molecule expression alone is insufficient for diagnosis and is not in itself an indicator of prognosis. We present a review of CTCL subtypes that can demonstrate CD8 positivity: CD8+ mycosis fungoides (MF), LyP type D, subcutaneous panniculitis-like T-cell lymphoma (SPTCL), primary cutaneous gamma/delta T-cell lymphoma (PCGDTL), CD8+ AECTCL, and acral CD8+ T-cell lymphoproliferative disorder (acral CD8+ TCLPD). These diseases may have different clinical manifestations and distinctive treatment algorithms. Due to the rare nature of these diseases, it is imperative to integrate clinical, histologic, and immunohistochemical findings to determine an accurate diagnosis and an appropriate treatment plan.

5.
Pathogens ; 13(9)2024 Sep 11.
Article in English | MEDLINE | ID: mdl-39338976

ABSTRACT

Mycolicibacterium hassiacum (homotypic synonym: Mycobacterium hassiacum) represents an ungrouped thermotolerant rapidly growing mycobacteria (RGM) species occasionally associated with infections and disease in humans. In this report, we describe a case of pyogranulomatous dermatitis and panniculitis due to M. hassiacum in an immunocompetent adult cat. To the best of our knowledge, this represents the first report of M. hassiacum infection in animals. We also report the results of the in-depth genome characterization of the isolate using a combined short- and long-read whole-genome sequencing (WGS) approach. We observed the lack of acquired-resistance genes and no evidence of mutations in housekeeping genes associated with resistance to rifampicin and isoniazid. We detected some virulence factors in our isolate, such as some associated with the interaction of mycobacteria with host cells, and the presence of multiple copies of heavy metal resistance genes (arsB, arsR, and arsL/cadL). In conclusion, M. hassiacum should be included among the RGM species associated with feline subcutaneous atypical mycobacteriosis (SAM). A reliable and fast RGM laboratory identification and characterization is important not only for an accurate etiological diagnosis but also for a correct approach to SAM treatment options.

6.
Front Oncol ; 14: 1412021, 2024.
Article in English | MEDLINE | ID: mdl-39224801

ABSTRACT

We report the case of a 54-year-old healthy Han Chinese male presenting with fever, pallor, erythematous subcutaneous nodules on the limbs, and significant anemia as indicated by routine blood tests, with no response to antimicrobial therapy. Initial skin biopsy was inconclusive. The erythematous subcutaneous nodules on the limbs rapidly progressed to widespread subcutaneous nodules across the body, with worsening anemia. Bone marrow biopsy revealed multifocal fibroblastic proliferation with focal fibrosis, classified as MF-2, and positive for the JAK2V617F mutation alongside SRSF2 positivity. Whole-body PET-CT scans did not reveal any lymph nodes or suspect lesions with high SUV uptake. A subsequent skin biopsy identified the condition as nodular panniculitis (NP), leading to a final diagnosis of primary myelofibrosis(PMF)with NP. The patient initially received treatment with oral ruxolitinib and prednisone acetate, resulting in normalization of body temperature, resolution of erythematous nodules, and normalization of blood parameters.

7.
J Vet Diagn Invest ; : 10406387241267870, 2024 Sep 04.
Article in English | MEDLINE | ID: mdl-39233384

ABSTRACT

A 10-y-old spayed female Cavalier King Charles Spaniel dog was presented to the Veterinary Teaching Hospital because of recurrent chronic abscesses on the distal pelvic limbs, fever, lethargy, lameness of unknown etiology, and chronic pancreatitis. Sterile nodular panniculitis was diagnosed after an extensive workup, and the dog initially responded to immunosuppressive therapy, but relapse and spread of cutaneous lesions and acute lameness occurred after 11 mo, and euthanasia was elected. Postmortem examination confirmed hyalinizing pancreatic adenocarcinoma with pancreatitis, panniculitis, polyarthritis (PPP), and osteomyelitis. Histopathology and bacterial and fungal cultures were supportive of a sterile process, specifically the PPP syndrome, which is a rare, potentially life-threatening, systemic manifestation of pancreatic disease in both people and animals. To our knowledge, a clinicopathologic description of a hyalinizing pancreatic adenocarcinoma associated with this rare syndrome has not been reported previously in a dog.

8.
Cancer Sci ; 2024 Sep 17.
Article in English | MEDLINE | ID: mdl-39288772

ABSTRACT

Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare peripheral T-cell lymphoma characterized by cutaneous lesions and immunologic manifestations. The five-year survival rate of SPTCL has been reported to be over 80%, indicating a favorable prognosis. Recent studies have uncovered recurrent germline variants in HAVCR2, encoding an immunomodulator. In this study, we integrated whole-exome sequencing data from 60 samples collected from 36 SPTCL patients, encompassing six patients of our cohort and 30 patients of publicly available data. We identified 138 somatic mutations in skin tumors of 24 patients and HAVCR2 germline mutations in 23 of 29 patients. HAVCR2 p.Tyr82Cys mutations were identified in four of six Japanese patients. During the clinical courses of four patients, cyclophosphamide, hydroxydaunomycin, vincristine, and prednisone were administered to all patients, but it resulted in incomplete responses in all four patients. However, disease conditions of all patients remained stable with additional treatment, including autologous peripheral blood stem cell transplantation. Over a 7.5-year median follow-up, one patient developed autoimmune-related diseases, while one developed other hematological malignancy, resulting in death. To our knowledge, this is the first report of recurrent HAVCR2 germline mutations in Japanese patients, suggesting the necessity for long-term follow-up.

10.
Pancreatology ; 24(6): 870-877, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39147659

ABSTRACT

BACKGROUND: Spontaneous pancreatic portal vein fistula (PPVF) - a rare complication of pancreatic inflammation - varies widely in presentation and means of diagnosis but has been previously associated with bleeding complications and mortality. A systematic review of published literature was performed to assess the frequency of outcomes. METHODS: A search of electronic databases (PubMed, Ovid MEDLINE, Scopus, EMBASE, gray literature) resulted in 1667 relevant unique manuscripts; 52 met inclusion criteria. RESULTS: A total of 74 unique (male n = 47, 63.5 %) patients were included. Mean age was 53.5 (±11.9) years. History of alcohol use was reported in 55 (74.3 %). Underlying chronic pancreatitis (CP) was present in 49 (66.2 %). In cases where presenting symptoms were reported (n = 57, 77.4 %), the most frequent were abdominal pain (63.5 %), weight loss (14.9 %), rash (12.2 %), nausea/vomiting (12.2 %), and polyarthritis (9.5 %). Computed tomography was the most common imaging modality used to confirm the diagnosis (n = 20, 27.0 %), followed by magnetic resonance cholangiopancreatography (n = 14, 18.9 %). Portal vein thrombosis was reported in 57 (77.0 %), and bleeding events (luminal, variceal, or intra-pseudocyst) were reported in 13(17.6 %) patients. Younger age was associated with higher risk of bleeding events. Mortality was reported in 12 (16.2 %) patients at any time during follow up. Older age and polyarthritis at presentation were associated with mortality. CONCLUSIONS: PPVF is a rare and potentially fatal condition, though rates of bleeding complication and death were relatively low in this population. High-quality observational studies are needed to better understand the pathophysiology and natural history of this diagnosis.


Subject(s)
Pancreatic Fistula , Portal Vein , Humans , Portal Vein/diagnostic imaging , Portal Vein/pathology , Pancreatic Fistula/etiology , Pancreatic Fistula/epidemiology , Male , Middle Aged , Female , Vascular Fistula/complications , Vascular Fistula/diagnostic imaging
11.
Ann Hematol ; 2024 Aug 23.
Article in English | MEDLINE | ID: mdl-39177795

ABSTRACT

Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare subtype of T-cell lymphomas with a characteristic feature of subcutaneous nodules associated with hemophagocytic lymphohistiocytosis (HLH). Treatment options for SPTCL are mainly chemotherapy (CMT) or immunosuppressive agents with selection currently dependent on physician decisions. Outcomes between the 2 treatment remedies have not yet been comprehensively compared. This study aimed to compare complete remission (CR) rates between SPTCL patients receiving cyclosporin (CSA)-based regimen (CSA +/- steroid) and CMT. The 5-year overall survival (OS) and 5-year progression free survival (PFS) were also analyzed. Clinical data from patients with SPTCL were drawn from the Thai Lymphoma Study Group registry who were newly diagnosed between 2007 and 2023. A total of 93 patients were selected with 45 cases having received CSA-based regimen and 48 cases having received CMT. There were more patients with limited stage at skin in the CSA group (63.8% vs. 36.2%, p = 0.003), while more patients with hepato- and/or splenomegaly were found in the CMT group (56.2% vs. 24.5%; p = 0.002). Germline HAVCR2 mutations were detected in 26/33 (78.8%) cases. The CR rate was significantly higher in patients treated with CSA (87% vs. 58.3%; OR = 6.5 [95%CI, 2.7-15.3]; p = 0.002). At a median follow-up of 87.8 months (range 0-185), the 5-year OS (98% vs. 87%, p = 0.19) and PFS (72.4% vs. 69.2%, p = 0.19) showed a trend favoring patients treated with CSA. Based on our study, CSA-based regimens are the preferred first-line treatment remedy for newly diagnosed SPTCL, especially in patients with limited cutaneous involvement.

12.
Adv Exp Med Biol ; 1448: 429-440, 2024.
Article in English | MEDLINE | ID: mdl-39117831

ABSTRACT

Hemophagocytic lymphohistiocytosis (HLH) has been described for decades in association with malignancies (M-HLH). While its mechanism is unknown, M-HLH has a poor prognosis, ranging from 10% to 30% overall survival. Mature T-cell lymphomas, diffuse large B-cell lymphoma, and Hodgkin lymphoma, with or without viral co-triggers such as Epstein-Barr virus, are among the most frequent underlying entities. Most M-HLH cases occur at the presentation of malignancy, but they may also occur during therapy as a result of immune compromise from chemotherapy (HLH in the context of immune compromise, IC-HLH) and (typically) disordered response to infection or after immune-activating therapies (Rx-HLH, also known as cytokine release syndrome, CRS). IC-HLH typically occurs months after diagnosis in the context of fungal, bacterial, or viral infection, though it may occur without an apparent trigger. Rx-HLH can be associated with checkpoint blockade, chimeric antigen receptor T-cell therapy, or bispecific T-cell engaging therapy. Until recently, M-HLH diagnosis and treatment strategies were extrapolated from familial HLH (F-HLH), though optimized diagnostic and therapeutic treatment strategies are emerging.


Subject(s)
Hematologic Neoplasms , Lymphohistiocytosis, Hemophagocytic , Lymphohistiocytosis, Hemophagocytic/immunology , Lymphohistiocytosis, Hemophagocytic/diagnosis , Lymphohistiocytosis, Hemophagocytic/etiology , Lymphohistiocytosis, Hemophagocytic/therapy , Humans , Hematologic Neoplasms/immunology , Hematologic Neoplasms/therapy , Neoplasms/immunology , Neoplasms/therapy , Cytokine Release Syndrome/immunology , Cytokine Release Syndrome/etiology , Immune Checkpoint Inhibitors/therapeutic use
13.
Skin Res Technol ; 30(8): e13899, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39112439

ABSTRACT

BACKGROUND: Due to its rarity, subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is often misdiagnosed as benign panniculitis, and there are no standardized treatment guidelines for SPTCL. Aurora kinase A (AURKA) plays a regulatory role in both mitosis and meiosis. Cells treated with an AURKA inhibitor showed severe mitotic delay, which triggered apoptosis. MATERIALS AND METHODS: Ten cases of SPTCL were collected in this study, and immunohistochemistry was performed to detect AURKA expression in the skin tissues of these cases. Control groups were set as follows: 1) 10 cases of inflammatory panniculitis; 2) 9 healthy individuals. Fisher's exact test was used to compare the positive rates of AURKA among various groups. RESULTS: An average onset age of 27.3 years was found in 10 SPTCL cases. Clinically, these patients primarily presented with multiple subcutaneous nodules on the trunk and lower extremities, accompanied by intermittent high fever. One case showed lymph node metastasis, while no other distant organ metastasis being observed in any case. Pathologically, there was an infiltration of a large number of atypical lymphocytes within the fat lobules, characterized as a cytotoxic type. AURKA stanning was positive in 6 out of 10 SPTCL cases, while no positive cases were found in the control groups. CONCLUSION: 1) SPTCL predominantly affects young individuals and can be identified by nodular erythema on the trunk, intermittent high fever, and infiltration of atypical cytotoxic lymphocytes within fat lobules. 2) For early-stage cases without metastasis, monotherapy with glucocorticoids or immunosuppressants such as cyclosporine can be considered. 3) High expression of AURKA in SPTCL tissues suggests that AURKA could be a potential biomarker for disease diagnosis, providing a theoretical basis for further targeted therapy.


Subject(s)
Aurora Kinase A , Lymphoma, T-Cell , Panniculitis , Humans , Aurora Kinase A/genetics , Aurora Kinase A/metabolism , Panniculitis/enzymology , Panniculitis/pathology , Female , Male , Adult , Lymphoma, T-Cell/pathology , Lymphoma, T-Cell/enzymology , Lymphoma, T-Cell/genetics , Young Adult , Diagnosis, Differential , Middle Aged , Adolescent , Skin/pathology , Immunohistochemistry
14.
JAAD Case Rep ; 51: 79-81, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39206380
15.
Emerg Radiol ; 31(5): 661-668, 2024 Oct.
Article in English | MEDLINE | ID: mdl-38969913

ABSTRACT

BACKGROUND: Mesenteric panniculitis is a rare condition and refers to benign and nonspecific inflammation of mesenteric fat. OBJECTIVES: This study aimed to evaluate the hypothesis of a greater prevalence of mesenteric panniculitis in patients with urolithiasis. MATERIALS AND METHODS: In this cross-sectional study, abdominopelvic CT scans of 500 patients were reviewed for the presence of urolithiasis and mesenteric panniculitis. The inclusion criteria were patients who were referred with acute abdominal pain and were suspected of having urolithiasis or other urinary conditions and who had undergone abdominopelvic CT scan. Subcutaneous fat thickness was measured, and pain intensity was recorded by patient evaluation. RESULTS: Mesenteric panniculitis was found in 10 patients, all of whom (100%) had urinary stones (ureter or kidney or both), and none of them had previous surgeries or known malignancies. The prevalence of panniculitis was significantly greater in the group with urolithiasis. In the urolithiasis group, subcutaneous fat thickness was greater in patients with panniculitis, although the difference was not statistically significant. In the subgroup analysis, pain intensity was not significantly greater in patients with panniculitis. CONCLUSION: Mesenteric panniculitis is more prevalent among patients with urolithiasis, but it seems that it does not change the intensity of the pain.


Subject(s)
Panniculitis, Peritoneal , Tomography, X-Ray Computed , Urolithiasis , Humans , Male , Female , Panniculitis, Peritoneal/diagnostic imaging , Panniculitis, Peritoneal/complications , Urolithiasis/diagnostic imaging , Urolithiasis/complications , Middle Aged , Cross-Sectional Studies , Adult , Aged , Prevalence , Aged, 80 and over , Retrospective Studies , Pain Measurement
16.
J Vet Dent ; : 8987564241264462, 2024 Jul 23.
Article in English | MEDLINE | ID: mdl-39042871

ABSTRACT

A 2-year-old male neutered Standard Poodle weighing 17.9 kg was presented to their primary care veterinarian for enlarged bilateral submandibular swellings following an interdog altercation sustained in the previous weeks. Cytology performed following fine-needle aspirates of the regions of swelling was inconclusive, and the patient was treated empirically with Clavaseptin. Despite treatment, the submandibular swellings continued to enlarge, and right-sided intermittent epistaxis was reported. On biochemical profile, there was mild hypercalcemia and mild hyperglobulinemia. The computed tomography (CT) findings were indicative of severe multifocal sialadenitis with severe regional cellulitis and inflammatory lymphadenopathy. Histopathology and cytology results described mixed inflammation of the salivary gland. Methenamine silver staining and Fite's acid-fast staining were negative. Aerobic and anaerobic cultures were negative. Targeted, next-generation DNA sequencing detected no known fungi or bacterial pathogens. These findings were consistent with the diagnosis of severe bilateral mandibular sialadenitis, panniculitis, and lymphadenopathy. The patient was prescribed enrofloxacin, clindamycin, phenobarbital, and prednisolone for 1 month. One week after initiating treatment, the patient had a significant reduction in size of the salivary glands. CT imaging was helpful in the diagnosis of this patient and allowed the clinician to identify which submandibular anatomical structures were abnormal, guiding subsequent diagnostic decisions to provide medical management to resolve the condition.

17.
J Dermatol ; 2024 Jul 19.
Article in English | MEDLINE | ID: mdl-39031307

ABSTRACT

Lupus erythematosus panniculitis (LEP) is a chronic inflammatory skin disease with a significant impact on the overall well-being of patients. The safety and efficacy of oral baricitinib for the treatment of LEP have not been studied. This study aimed to explore the efficacy of oral baricitinib in patients with LEP who are recalcitrant or intolerant to conventional therapies. Patients (aged ≥18 years) with active LEP (with a revised cutaneous lupus erythematosus disease area and severity index [RCLASI]-active score ≥4] were randomly assigned 2:1 to baricitinib (4 mg) or placebo (once daily for 20 weeks). The placebo group was switched to baricitinib (4 mg) at week 13, and the final evaluation was conducted at week 24. The primary endpoint was the proportion of patients with an RCLASI-A score decreased by 20% at week 12. The secondary endpoints included the changes in the Cutaneous Lupus Erythematosus Disease Area and Severity Index active-(CLASI-A) score, the Dermatology Life Quality Index (DLQI), the Physician's Global Assessment (PGA) score, and safety. Five patients were enrolled. Three patients received baricitinib (4 mg), and two patients were treated with placebo. Two patients in the baricitinib treatment group showed a significant RCLASI-A decrease at week 12 and week 24. Two patients in the placebo group had no change in RCLASI-A at week 12 and a significant decrease at week 24. No new safety events were observed. Treatment with baricitinib was effective and well tolerated in patients with LEP.

18.
Inflamm Intest Dis ; 9(1): 157-164, 2024.
Article in English | MEDLINE | ID: mdl-39015257

ABSTRACT

Background: Mesenteric panniculitis (MP) is an uncommon non-neoplastic idiopathic inflammation of adipose tissue, mainly affecting the mesentery of the small intestine, with its etiology remaining largely speculative. The difference in prevalence of MP among females and males varies across multiple studies. In most cases, MP is asymptomatic; however, patients can present with nonspecific abdominal symptoms or can mimic underlying gastrointestinal and abdominal diseases. The diagnosis is suggested by computed tomography and is usually confirmed by surgical biopsies if necessary. Treatment is generally supportive and based on a few selected drugs, namely, nonsteroidal anti-inflammatory drugs or corticosteroids. Surgery is reserved when the diagnosis is unclear, when malignancy is suspected or in the case of severe presentation such as mass effect, bowel obstruction, or ischemic changes. Summary: MP is a rare inflammatory condition of the mesentery often asymptomatic but can cause nonspecific abdominal symptoms. Diagnosis relies on computed tomography imaging, with treatment mainly supportive, utilizing medications like nonsteroidal anti-inflammatory drugs or corticosteroids, while surgery is reserved for severe cases or diagnostic uncertainty. Key Messages: MP causes abdominal pain, and it is mainly diagnosed with CT scan.

19.
Actas Dermosifiliogr ; 2024 Jul 18.
Article in English, Spanish | MEDLINE | ID: mdl-39032781

ABSTRACT

BACKGROUND AND OBJECTIVE: subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic T-cell lymphoma with indolent behavior, mostly present in women and associated with immunological diseases whose pathogenic background is still poorly understood. SPTCL is associated with lupus erythematosus panniculitis (LEP) and histologically misdiagnosed. OBJECTIVES: the aim of our study was to identify mutations affecting the pathogenesis of both SPTCL and LEP. MATERIALS AND METHODS: we studied a total of 10 SPTCL and 10 LEP patients using targeted Next Generation Sequencing and pyrosequencing. Differences in gene expression between molecular subgroups were investigated using NanoString technology. Clinical data were collected, and correlations sought with the molecular data obtained. RESULTS: the mutational profile of SPTCL and LEP is different. We identified fewer pathogenic mutations than previously reported in SPTCL, noting a single HAVCR2-mutated SPTCL case. Interestingly, 40% of our SPTCL cases showed the pathogenic TP53 (p.Pro72Arg) (P72R) variant. Although cases showing HAVCR2 mutations or the TP53 (P72R) variant had more severe symptomatic disease, none developed hemophagocytic syndrome (HPS). Furthermore, TP53 (P72R)-positive cases were characterized by a lower metabolic signaling pathway and higher levels of CD28 expression and Treg signaling genes. In addition, 30% of our cases featured the same mutation (T735C) of the epigenetic modificatory gene DNMT3A. None of the LEP cases showed mutations in any of the studied genes. CONCLUSIONS: the mutational landscape of SPTCL is broader than previously anticipated. We describe, for the first time, the involvement of the TP53 (P72R) pathogenic variant in this subgroup of tumors, consider the possible role of different genetic backgrounds in the development of SPTCL, and conclude that LEP does not follow the same pathogenic pathway as SPTCL.

20.
Indian Dermatol Online J ; 15(4): 634-636, 2024.
Article in English | MEDLINE | ID: mdl-39050080

ABSTRACT

Linear and annular lupus panniculitis of the scalp is a rare form of lupus panniculitis recently reported in literature. It presents as linear or annular or arciform areas of nonscarring alopecia of the scalp with minimal surface changes. We report a 4-year-old Indian female child with arciform erythematous plaque over the forehead extending on the scalp with nonscarring alopecia with annular erythematous plaque over the cheek. Histology showed lobular lymphocytic panniculitis with abundant mucin deposition. Antinuclear antibody and systemic screen for lupus were negative. After treatment with oral corticosteroids, complete remission was achieved with good regrowth of scalp hair with no relapse during the follow-up period of 6 months. This is the youngest reported case of linear and annular lupus panniculitis of the scalp.

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