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Clinical Immunology (Orlando, Fla.) Jun 2024OTULIN encodes an eponymous linear deubiquitinase (DUB) essential for controlling inflammation as a negative regulator of the canonical NF-κB signaling pathway via the...
OTULIN encodes an eponymous linear deubiquitinase (DUB) essential for controlling inflammation as a negative regulator of the canonical NF-κB signaling pathway via the regulation of M1-Ub dynamics. Biallelic loss-of-function (LOF) mutations in OTULIN cause an autosomal recessive condition named Otulin-Related Autoinflammatory Syndrome (ORAS), also known as Otulipenia or AutoInflammation, Panniculitis, and Dermatosis Syndrome (AIPDS). Monoallelic OTULIN 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 (DN) effects. In this manuscript, we report the identification of a novel homozygous missense mutation, c.595 T > A; p.(Trp199Arg), in a Moroccan infant with an ORAS phenotype and provide experimental evidence for its pathogenicity. We go on to systematically review the literature for OTULIN-associated conditions by using the GenIA database (www.geniadb.net) 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 OTULIN pathogenic variants may lead to human immune disease. This review may help variant classification activities and inform future variant evaluation, as well as the development of diagnostic and management guidelines. It also identifies current knowledge gaps and raises additional questions warranting future investigation.
PubMed: 38914362
DOI: 10.1016/j.clim.2024.110292 -
Plastic and Reconstructive Surgery.... Jun 2024Endometriosis is a common gynecological disorder described as the presence of functional endometrial tissue outside the uterus, which can also be found in extrapelvic...
BACKGROUND
Endometriosis is a common gynecological disorder described as the presence of functional endometrial tissue outside the uterus, which can also be found in extrapelvic locations. Although patients seeking treatment for endometriosis usually present to gynecologists, there are rare cases of endometriosis encountered by plastic surgeons in routine practice, either incidentally or as a concomitant finding.
METHODS
We present a rare case of a 36-year-old woman with symptoms of panniculitis desiring panniculectomy. During surgery, an abdominal mass was excised and confirmed by pathological analysis to be endometriosis. A comprehensive literature review was conducted using the PubMed search engine of the National Institutes of Health to identify cases of endometriosis in plastic surgery. Following screening of the results, 14 articles were included in this analysis that fit the criteria of our search.
RESULTS
Of the 14 articles reviewed, cutaneous endometriosis was the most common subtype found in plastic surgery. None of the studies described findings of endometriosis in routine panniculectomies. Several identified endometriosis discovered during cosmetic abdominoplasties.
CONCLUSIONS
Endometriosis encountered in plastic surgery is a rare but clinically important occurrence, with the cutaneous subtype representing the majority of cases. Endometriosis should always be on the differential diagnosis when an abdominal mass is found in a patient with a history of abdominal surgery. Abdominal masses found during routine aesthetic or reconstructive surgery should be submitted for tissue analysis to guide possible secondary treatments.
PubMed: 38911574
DOI: 10.1097/GOX.0000000000005904 -
The Tokai Journal of Experimental and... Jul 2024Panniculitis is an inflammation that occurs in subcutaneous adipose tissue. Panniculitis includes physical panniculitis (e.g., traumatic) and infectious panniculitis...
Panniculitis is an inflammation that occurs in subcutaneous adipose tissue. Panniculitis includes physical panniculitis (e.g., traumatic) and infectious panniculitis (e.g., bacterial, fungal, subcutaneous panniculitis-like T cell lymphoma [SPCTL], etc.). Accurate diagnosis is crucial due to similar clinical presentation of all types of panniculitis. Here, we report a case of SPCTL which was initially diagnosed with traumatic panniculitis. A 15-year-old male patient was admitted to a previous hospital due to a progressively enlarged right flank and inguinal mass after an abdominal bruise. He was initially diagnosed with traumatic panniculitis, but the mass expanded throughout the chest and abdomen accompanied by a fever of over 11 months. Computed tomography (CT) revealed a subcutaneous mass in the anterior chest and abdominal wall. Fludeoxyglucose F18 (FDG) uptake was observed at those lesions using FDG-positron emission tomography (PET). A biopsy of the mass lesion was performed, during which SPCTL was diagnosed based on pathological examination. He was initially treated with prednisolone and cyclosporine A for two weeks. His fever went down, but subcutaneous mass in the chest and abdominal wall persisted. Therefore, he received a cyclophosphamide, doxorubicin, vincristine, and prednisone (CHOP) regimen. After 6 courses of CHOP, CT revealed no disease evidence. He remained in complete remission at 30 months of therapy.
Topics: Humans; Male; Panniculitis; Adolescent; Lymphoma, T-Cell; Antineoplastic Combined Chemotherapy Protocols; Cyclophosphamide; Doxorubicin; Vincristine; Disease Progression; Prednisone; Tomography, X-Ray Computed; Positron-Emission Tomography; Fluorodeoxyglucose F18; Treatment Outcome; Biopsy; Diagnosis, Differential
PubMed: 38904233
DOI: No ID Found -
Pediatric Dermatology Jun 2024Acquired generalized lipodystrophy (AGL) is a rare disease characterized by variable loss of adipose tissue and concurrent metabolic derangements, typically with...
Acquired generalized lipodystrophy (AGL) is a rare disease characterized by variable loss of adipose tissue and concurrent metabolic derangements, typically with childhood or adolescent onset. AGL has three subclassifications: panniculitis (type 1), autoimmune disease (type 2), and idiopathic (type 3). This report highlights a rare case of AGL type 1 in a previously healthy 3-year-old female who presented with diffuse erythematous subcutaneous nodules, progressive lipoatrophy, and histopathological findings of a lobular panniculitis.
PubMed: 38887123
DOI: 10.1111/pde.15668 -
Zeitschrift Fur Rheumatologie Jun 2024Erythema nodosum (EN) is the most frequently occurring form of acute panniculitis. It is characterized by painful red to livid raised nodules or bumps that typically...
Erythema nodosum (EN) is the most frequently occurring form of acute panniculitis. It is characterized by painful red to livid raised nodules or bumps that typically occur symmetrically in the shin area. The cause of EN is often a reaction of the immune system to various triggers including infections, inflammatory diseases or medications. In approximately half of the cases no trigger can be identified. After treatment of the underlying pathology EN is typically self-limiting.
PubMed: 38884811
DOI: 10.1007/s00393-024-01529-4 -
Pediatric Dermatology Jun 2024Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) or proteasome-associated autoinflammatory syndrome is a rare...
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) or proteasome-associated autoinflammatory syndrome is a rare autoinflammatory disorder that typically presents in infancy with characteristic symptoms, including recurrent fever, panniculitis, and progressive lipodystrophy, among other findings. We present a case of mother and child with CANDLE syndrome. The child was eventually started on baricitinib with normalization of rash and systemic findings.
PubMed: 38881047
DOI: 10.1111/pde.15667 -
Haematologica Jun 2024Not available.
Not available.
PubMed: 38867583
DOI: 10.3324/haematol.2023.284738 -
The Journal of Dermatological Treatment Dec 2024The incidence of cutaneous paradoxical reactions associated with IL-17 inhibitors has gained attention in recent literature. Our report aims to investigate the... (Review)
Review
The incidence of cutaneous paradoxical reactions associated with IL-17 inhibitors has gained attention in recent literature. Our report aims to investigate the characteristics of one rare paradoxical reaction, presenting as Behcet's disease. We reported one case of Behcet's-like disease induced by secukinumab in a patient with psoriasis. This patient, a young woman with a long history of psoriasis, showed significant improvement in her psoriatic condition after receiving four doses of secukinumab. Unexpectedly, she developed symptoms such as high fever, painful oral and genital ulcers, facial maculopapules, and erythema nodosum-like lesions on her lower limbs. Despite neutrophilia, there was no evidence of infection found in her laboratory tests. Histological analysis of a skin biopsy highlighted subcutaneous panniculitis and a mixed inflammatory cell infiltrate in the dermis. The patient was consequently diagnosed with secukinumab-induced Behcet's-like disease. Additionally, we have reviewed nine other documented cases of Behcet's-like disease triggered by IL-17 inhibitors. This group showed no significant gender preference, suffering from conditions such as psoriasis, ankylosing spondylitis, and hidradenitis suppurativa. Oral and genital ulcers were prevalent among the paradoxical reactions noted. Marked improvement was observed in all patients upon discontinuation of the IL-17 inhibitors. Our report serves to alert physicians to this uncommon but significant paradoxical effect that may arise with anti-IL-17 treatment.
Topics: Humans; Female; Antibodies, Monoclonal, Humanized; Behcet Syndrome; Psoriasis; Adult; Interleukin-17; Skin
PubMed: 38857894
DOI: 10.1080/09546634.2024.2347440 -
The American Journal of Dermatopathology Jun 2024A 65-year-old woman presented with unexplained weight loss, recurrent fever, and a dermatosis with painful nodules on the extremities. Biopsies showed focal lobular...
A 65-year-old woman presented with unexplained weight loss, recurrent fever, and a dermatosis with painful nodules on the extremities. Biopsies showed focal lobular panniculitis with neutrophilic microgranulomas. Comprehensive investigations ruled out infection and hematologic and solid organ neoplasms. Laboratory results showed anti-Ro/SSA and anti-La/SSB antibody positivity, and elevated inflammatory markers. Dry mouth and eye were confirmed. The diagnosis of Sjögren syndrome with cutaneous panniculitis was established. Prednisone treatment with 30 mg/d resulted in remission of fever and pain improvement. This case emphasizes Sjögren syndrome as an autoimmune disease with multiple cutaneous manifestations and highlights its association with granulomatous panniculitis.
PubMed: 38842395
DOI: 10.1097/DAD.0000000000002737 -
Clinical, Cosmetic and Investigational... 2024Cytophagic histiocytic panniculitis (CHP) is a rare panniculitis associated with systemic features characterized by the infiltration of subcutaneous adipose tissue by...
BACKGROUND
Cytophagic histiocytic panniculitis (CHP) is a rare panniculitis associated with systemic features characterized by the infiltration of subcutaneous adipose tissue by benign-appearing T lymphocytes and phagocytic histiocytes, mimicking hemophagocytic lymphohistiocytosis (HLH) and subcutaneous panniculitis-like T-cell lymphoma (SPTCL).
PURPOSE
To establish the clinicopathological features and response to treatment of CHP and evaluate the prognosis of patients and guide therapy based on the current state of knowledge.
MATERIAL AND METHODS
Clinical, laboratory, histopathological, and outcome data of 12 patients with CHP were retrospectively collected between 2009 and 2022.
RESULTS
All the patients presented with plaques or nodules, mostly located in the lower extremities (11/12). Fewer cases involved systemic symptoms (9/12) and laboratory abnormalities (6/12), and none were positive for serum Epstein-Barr virus (EBV)-DNA. Histopathological examination revealed mixed septal and lobular inflammatory infiltration of histiocytes and lymphocytes. Large or atypical lymphocytes were rarely present (2/12). In some patients, varying proportions of plasma cells, neutrophils, and eosinophils were observed. The extent of histocytophagy was mild (9/12), moderate (2/12), and severe (1/12). HLH was not observed in any of our cases, none of which were fatal.
CONCLUSION
The uniqueness of our study lies in the presence of neutrophil-rich dermal and subcutaneous infiltrates, associated with connective tissue disorders (CTD) and streptococcal infections. Our study reveals that EBV-negative CHP tends to a better prognosis than previously research, filling the gap in the much-needed details of CHP in the Chinese population. Moreover, CHP may present as a reactive process in combined primary diseases; further studies are required to validate these findings.
PubMed: 38831784
DOI: 10.2147/CCID.S460784