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La Revue de Medecine Interne Nov 2023
Topics: Humans; Skin Diseases; Panniculitis; Skin
PubMed: 37414675
DOI: 10.1016/j.revmed.2023.06.006 -
Current Rheumatology Reviews 2024Panniculitis was first described in the nineteenth century and is characterized by inflammation of the subcutaneous fat. It may be categorized in septal or lobular... (Review)
Review
Panniculitis was first described in the nineteenth century and is characterized by inflammation of the subcutaneous fat. It may be categorized in septal or lobular subtypes, but other histopathological features (e.g., presence of vasculitis, nature of inflammatory infiltrates, characteristics of fat necrosis) are also important for diagnostic purposes. Clinically, panniculitis is characterized by the presence of subcutaneous nodules, and both ulcerative and nonulcerative clinical subtypes have been proposed. In this review, we aimed to describe the occurrence of panniculitis in autoinflammatory disorders (AIDs) and related diseases. Among monogenic AIDs, panniculitis is common in IFN-mediated disorders. Panniculitis is a distinctive feature in proteasome-associated autoinflammatory syndromes (PRAAS), including chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome and Nakajo-Nishimura syndrome. On the other hand, erythema nodosum corresponds to the most common clinical form of panniculitis and is common in polygenic AIDs, such as Behçet's syndrome, inflammatory bowel disease, and sarcoidosis. Cytophagic histiocytic panniculitis, lipoatrophic panniculitis of children, and otulipenia are rare disorders that may also present with inflammation of the subcutaneous fat. Therefore, panniculitis can identify a specific subgroup of patients with AIDs and may potentially be regarded as a cardinal sign of autoinflammation.
Topics: Humans; Panniculitis; Hereditary Autoinflammatory Diseases; Inflammation
PubMed: 37921131
DOI: 10.2174/0115733971254702231020060633 -
Dermatologic Clinics Apr 2024Neutrophilic panniculitides are a heterogeneous group of inflammatory disorders encompassing many different entities. This review article focuses on the epidemiology,... (Review)
Review
Neutrophilic panniculitides are a heterogeneous group of inflammatory disorders encompassing many different entities. This review article focuses on the epidemiology, pathogenesis, clinicopathological features, diagnosis, and treatment of selected diseases. Patients often seek care due to systemic involvement, but the variable presentation of panniculitides can present a diagnostic challenge. Most therapeutic modalities for neutrophilic disorders are anecdotal at best with a notable lack of standardization of the responses to medications. There is an urgent need for a larger multi-institutional collaboration to address the unmet needs of these challenging, yet rare conditions.
Topics: Humans; Panniculitis
PubMed: 38423687
DOI: 10.1016/j.det.2023.08.005 -
QJM : Monthly Journal of the... Mar 2024
Topics: Humans; Panniculitis, Peritoneal; Mesentery
PubMed: 38039181
DOI: 10.1093/qjmed/hcad266 -
Journal Der Deutschen Dermatologischen... Dec 2023VEXAS syndrome is a recently identified autoinflammatory systemic disease caused by an acquired somatic mutation of the X-linked UBA1 gene, the key enzyme of the first... (Review)
Review
VEXAS syndrome is a recently identified autoinflammatory systemic disease caused by an acquired somatic mutation of the X-linked UBA1 gene, the key enzyme of the first step of ubiquitylation. The acronym VEXAS stands for the characteristics Vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic. The disease occurs in advanced adulthood preferentially in men and is characterized by hematological, rheumatological and dermatological symptoms. The latter include neutrophil-rich lesions reminiscent of Sweet's syndrome, erythema nodosum- and panniculitis-like skin manifestations and recurrent polychondritis of the nose and auricles. The presence of cytoplasmic vacuoles in myeloid and erythroid precursors in the bone marrow is characteristic. In up to half of the cases, VEXAS syndrome is associated with myelodysplastic syndrome. Dermatologists should be familiar with the clinical picture, as skin symptoms are often the first indicator of the disease. Molecular diagnostics are essential for confirming the diagnosis and risk stratification of affected patients. In this minireview we provide an overview of the pathophysiology, diagnosis and therapy of VEXAS syndrome and illustrate its clinical picture with two own cases.
Topics: Male; Humans; Adult; Sweet Syndrome; Autoimmune Diseases; Cartilage Diseases; Ear Auricle; Mutation
PubMed: 37953404
DOI: 10.1111/ddg.15227