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JAAD Case Reports Jun 2024
PubMed: 38766391
DOI: 10.1016/j.jdcr.2024.03.019 -
Cureus Apr 2024Erythema nodosum (EN) is the most common form of panniculitis and occurs in about one in 100,000 people. EN typically presents as an eruption of tender, erythematous...
Erythema nodosum (EN) is the most common form of panniculitis and occurs in about one in 100,000 people. EN typically presents as an eruption of tender, erythematous nodules on the anterior aspect of the legs, although the face, trunk, and arms can also be involved. While the majority of cases are idiopathic, a subset of cases occurs in association with various triggers, including infections, medications, tumors, and autoimmune diseases. Rarely can EN develop in relation to pregnancy, which is thought to provide a physiologic background that favors its development. While pregnancy has been associated with EN in a minority of cases, currently, there is a limited amount of data suggesting that EN can develop in the late postpartum period. Herein, we present a case of a 20-year-old female with a six-week history of painful lesions on her lower extremities. A physical exam revealed multiple tender, erythematous nodules on the anterior aspect of the lower extremities, spanning from the knees to the toes. Laboratory workup showed no other identified triggers of EN in our patient besides pregnancy. Management of EN in our patient involved a low dose, six-day course of prednisone (initial dose of 15 mg/day) and ibuprofen for one week, leading to symptomatic improvement. Our case emphasizes the possibility of EN presenting in the late postpartum period. This case underscores the importance of considering EN in the differential diagnoses for women presenting with compatible lesions postpartum.
PubMed: 38765407
DOI: 10.7759/cureus.58526 -
Journal of Pediatric Hematology/oncology Jul 2024The occurrence of hemophagocytic lymphohistiocytosis (HLH) in patients with subcutaneous panniculitis-like T-cell lymphoma (SPTCL) may be due to HAVCR2 gene mutation,...
BACKGROUND
The occurrence of hemophagocytic lymphohistiocytosis (HLH) in patients with subcutaneous panniculitis-like T-cell lymphoma (SPTCL) may be due to HAVCR2 gene mutation, leading to T-cell immunoglobulin and mucin domain-containing molecule 3 deficiency, T-cell and macrophage activation, and proinflammatory cytokine production.
OBSERVATION
We report a patient with SPTCL and HLH for whom ruxolitinib, used as a novel treatment, showed notable therapeutic effects.
CONCLUSIONS
Remission of both HAVCR2 mutation-induced high inflammatory characteristics and significant symptoms post-ruxolitinib administration suggested that patients with SPTCL and HLH may not represent typical lymphoma cases. Ruxolitinib, with its relatively low toxic side effects, can provide favorable outcomes.
Topics: Humans; Pyrazoles; Panniculitis; Lymphoma, T-Cell; Nitriles; Mutation; Hepatitis A Virus Cellular Receptor 2; Pyrimidines; Lymphohistiocytosis, Hemophagocytic; Male; Child; Female
PubMed: 38748615
DOI: 10.1097/MPH.0000000000002868 -
Journal of Investigative Medicine High... 2024Subcutaneous panniculitis-like T-cell lymphoma (SPTLP), a unique variant of primary cutaneous T-cell lymphomas, clinically mimics subcutaneous panniculitis. It is... (Review)
Review
Subcutaneous panniculitis-like T-cell lymphoma (SPTLP), a unique variant of primary cutaneous T-cell lymphomas, clinically mimics subcutaneous panniculitis. It is typified by the development of multiple plaques or subcutaneous erythematous nodules, predominantly on the extremities and trunk. Epidemiological findings reveal a greater incidence in females than males, affecting a wide demographic, including pediatric and adult cohorts, with a median onset age of around 30 years. Diagnosis of SPTLP is complex, hinging on skin biopsy analyses and the identification of T-cell lineage-specific immunohistochemical markers. Treatment modalities for SPTLP are varied; while corticosteroids may be beneficial initially for many patients, a substantial number require chemotherapy, especially in cases of poor response or relapse. Generally, SPTLP progresses slowly, yet approximately 20% of cases advance to hemophagocytic lymphohistiocytosis (HLH), often correlating with a negative prognosis. We report a case of a young male patient presenting with prolonged fever, multiple skin lesions accompanied by HLH, a poor clinical course, and eventual death, diagnosed postmortem with SPTLP. In addition, we also present a literature review of the current evidence of some updates related to SPTLP.
Topics: Humans; Male; Biopsy; Diagnosis, Differential; Fatal Outcome; Lymphohistiocytosis, Hemophagocytic; Lymphoma, T-Cell; Lymphoma, T-Cell, Cutaneous; Panniculitis; Skin; Skin Neoplasms; Young Adult
PubMed: 38742532
DOI: 10.1177/23247096241253337 -
Internal Medicine (Tokyo, Japan) May 2024Histoplasmosis, a fungal infection caused by Histoplasma capsulatum, is endemic in many parts of the world. However, this is not common in Japan. We herein present a...
Disseminated Histoplasmosis presenting with panniculitis and macrophage activation syndrome in a patient undergoing immunosuppressive therapy for Mixed Connective Tissue Disease (MCTD).
Histoplasmosis, a fungal infection caused by Histoplasma capsulatum, is endemic in many parts of the world. However, this is not common in Japan. We herein present a unique case of military histoplasmosis in a 45-year-old female with mixed connective tissue disease (MCTD) who was receiving immunosuppressive therapy. The histological findings coupled with molecular confirmation led to final a diagnosis. This case emphasizes the diagnostic challenges associated with histoplasmosis in immunocompromised patients and underscores the importance of considering it in the differential diagnosis of any atypical presentation in rheumatic patients.
PubMed: 38719595
DOI: 10.2169/internalmedicine.3597-24 -
Research Square Mar 2024encodes an eponymous linear deubiquitinase (DUB), which through the regulation of M1-Ub dynamics, is essential for controlling inflammation as a negative regulator of...
encodes an eponymous linear deubiquitinase (DUB), which through the regulation of M1-Ub dynamics, is essential for controlling inflammation as a negative regulator of the canonical NF-B signaling pathway. Biallelic loss-of-function (LOF) mutations in cause an autosomal recessive condition named Otulin-Related Autoinflammatory Syndrome (ORAS), also known as Otulipenia or AutoInflammation, Panniculitis, and Dermatosis Syndrome (AIPDS). Monoallelic LOF, also known as OTULIN Haploinsufficiency (OHI) or Immunodeficiency 107 (IMD107), has been linked to an incompletely penetrant, dominantly inherited susceptibility to invasive Staphylococcal infections. At the same time, a recent novel ORAS-like inflammatory syndrome was described in association with a heterozygous missense mutation that appears to exert dominant negative effects. In this manuscript, we report the identification of a novel homozygous missense mutation, c.595T>A; p.(Trp199Arg), in a Moroccan infant with an ORAS phenotype. We go on to systematically review the literature for OTULIN-related human disease phenotypes by using the GenIA database to collect, extract and harmonize all clinical, laboratory and functional data for published patients and variants. Our comprehensive synthesis of genotypic, phenotypic, and mechanistic data enables a more in-depth view of the diverse mechanisms and pathways by which the pathogenic variants may lead to human immune disease. This review may help variant classification activities and the drafting of diagnostic and management guidelines; but it also identifies outstanding knowledge gaps and raises additional questions for future investigation.
PubMed: 38712244
DOI: 10.21203/rs.3.rs-3950863/v2 -
Journal Der Deutschen Dermatologischen... Jun 2024
Topics: Humans; Hereditary Autoinflammatory Diseases; Male; Syndrome; Female; Arthritis; Dermatitis; Fever
PubMed: 38708671
DOI: 10.1111/ddg.15382 -
Mayo Clinic Proceedings May 2024Sclerosing mesenteritis (SM), an idiopathic nonneoplastic condition affecting 0.18% to 3.14% of the population, is characterized by chronic fat necrosis, inflammation,... (Review)
Review
Sclerosing mesenteritis (SM), an idiopathic nonneoplastic condition affecting 0.18% to 3.14% of the population, is characterized by chronic fat necrosis, inflammation, and fibrosis most commonly of the mesentery of the small intestine. Sclerosing mesenteritis typically presents in the fifth or sixth decade of life, where patients with a history of abdominal surgery and/or autoimmune disease may be at higher risk. While many patients are asymptomatic, clinical features and complications are related to the mass effect resulting from the inflammation and fibrosis involved in the pathogenesis of SM. When present, common signs, symptoms, and complications include abdominal pain, weight loss, diarrhea, palpable abdominal mass on examination, bowel obstruction, chylous ascites, and mesenteric vessel thrombosis. Although SM was historically diagnosed predominantly by biopsy, current practice has shifted away from this to computed tomography imaging of the abdomen, given the invasive nature of biopsy. However, certain conditions, including mesenteric neoplasia (lymphoma, metastatic carcinoid tumor, desmoid tumor, mesenteric carcinomatosis), can mimic SM on imaging, and if clinical suspicion is equivocal, a biopsy may be warranted for definitive diagnosis. Asymptomatic patients do not require treatment. For patients with pronounced symptoms or complicated SM, the combination of tamoxifen 10 mg twice daily and prednisone 40 mg daily is the first-line pharmacotherapy; no randomized controlled trial of this regimen has been performed. Rarely, surgery may be necessary in cases of persistent bowel obstruction refractory to medical management. Sclerosing mesenteritis has an overall benign course in most cases, but disease progression and fatal outcomes have been reported.
Topics: Humans; Panniculitis, Peritoneal; Diagnosis, Differential
PubMed: 38702129
DOI: 10.1016/j.mayocp.2024.01.019 -
JCEM Case Reports May 2024Acquired generalized lipodystrophy (AGL) is an extremely rare disease that is characterized by loss of body fat affecting nearly all parts of the body. It is often...
Acquired generalized lipodystrophy (AGL) is an extremely rare disease that is characterized by loss of body fat affecting nearly all parts of the body. It is often associated with autoimmune diseases or panniculitis, whereas in other patients the underlying etiology is unclear. We report a 52-year-old male individual who was diagnosed with subcutaneous panniculitis-like T-cell lymphoma (SPTCL) that spontaneously went into remission. Years later he developed new subcutaneous nodules most concerning for relapse SPTCL or lupus panniculitis, followed by onset of hemophagocytic lymphohistiocytosis (HLH) that was treated with allogeneic stem cell transplantation. Notably, around the same time, he also developed generalized subcutaneous fat loss of both upper and lower extremities, chest, abdomen, and face that persisted after treatment of the HLH. Whole exome sequencing was performed to search for pathogenic variants that are associated with SPTCL, including those in hepatitis A virus cellular receptor 2 (), but did not detect any potential disease-causing variant. Our report brings to the attention a novel subtype of panniculitis-variety of AGL. Whether generalized loss of subcutaneous fat in this patient is due to lymphoma-associated panniculitis or due to development of adipose tissue-directed autoantibodies as a paraneoplastic "autoimmune" manifestation of SPTCL remains unclear.
PubMed: 38681964
DOI: 10.1210/jcemcr/luae069 -
The American Surgeon Apr 2024To determine outcomes after on lay large ventral hernia repair in obese patients.
OBJECTIVE
To determine outcomes after on lay large ventral hernia repair in obese patients.
INTRODUCTION
Large ventral hernia repairs (VHR) in obese patients remain a challenge. Obesity is a risk factor for intraoperative difficulties and postoperative complications. Recurrence rates after VHR in obese patients range between 12-50% versus 10% in nonobese patients. While results of laparoscopic techniques in VHR compare favorably to open, outcomes in correlation with obesity, technique, and defect size are less understood.
METHODS
A single surgeon's experience of 329 consecutive VHR between 2013-2022 was retrospectively reviewed. Inclusion criteria were obesity (BMI >30) and large hernia defects (>5 cm). A modified onlay technique was used which included component release and a lightweight monofilament polypropylene mesh. Primary outcome measures were hernia recurrence and wound complications.
RESULTS
A total of 56 patients met inclusion criteria. Patients were majority male (n=30, 54%), with a median age of 58.5 years (inter quartile range (IQR) 33-83), and median BMI of 36 kg/m (IQR: 30-72). Median hernia defect size was 8 cm (IQR: 5-15). Twenty patients had undergone prior mesh repairs. Median follow-up was 52 months (IQR: 6 months-9 years). Two patients experienced recurrence (3.6%) and four experienced wound complications (four seromas, one panniculitis, 8.9%). No patients suffered flap ischemia or necrosis.
CONCLUSION
Obesity is a risk factor for poor outcomes after VHR. We developed a protocol for obese patients with large defects involving a modified onlay technique which demonstrates comparable results to other VHR techniques in obese patients.
PubMed: 38676337
DOI: 10.1177/00031348241241706