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Scandinavian Journal of Rheumatology Jan 2022: Familial Mediterranean fever (FMF) is the most frequent monogenic autoinflammatory disease. It is associated with mutations. Its main features are recurrent episodes...
: Familial Mediterranean fever (FMF) is the most frequent monogenic autoinflammatory disease. It is associated with mutations. Its main features are recurrent episodes of fever and serositis. Patients can display dermatological manifestations such as erysipelas-like erythema, generally considered as a neutrophilic dermatosis (ND). It has been suggested that FMF can be associated with other types of ND. Our aim was to perform a systematic review of the literature to assess the link between ND and FMF.: A systematic review of the literature was performed using MEDLINE from 1946 to 2018. Three independent investigators identified reports of non-erysipelas-like erythema neutrophilic dermatosis (NEND) associated with FMF, selected the criteria to establish the diagnosis of FMF and ND, and evaluated the link between the two conditions. FMF-associated NEND was supported by confirmation of both diagnoses and exclusion of other causes of ND.: Eighteen articles were selected. Nine articles reported FMF patients with the following NEND: neutrophilic panniculitis (n = 4), Sweet syndrome (n = 6), and pyoderma gangrenosum (n = 1). None of these cases was supported by histological confirmation, fulfilled diagnostic criteria for definitive or probable FMF, or confirmed the exclusion of all the most frequent diseases associated with NEND. As a result, there is insufficient evidence to support a potential relationship between NEND and FMF.: The association between FMF and NEND remains unclear. In FMF patients with NEND, every differential diagnosis and alternative cause of NEND should be excluded before drawing any conclusions about a potential causal relationship.
Topics: Diagnosis, Differential; Familial Mediterranean Fever; Humans; Mutation; Pyrin; Skin Diseases
PubMed: 34159892
DOI: 10.1080/03009742.2021.1904588 -
Annales de Dermatologie Et de... 2013Recent developments and therapeutic use of selective BRAF inhibitors (e.g. dabrafenib and vemurafenib) have significantly improved overall survival and disease-free... (Review)
Review
Recent developments and therapeutic use of selective BRAF inhibitors (e.g. dabrafenib and vemurafenib) have significantly improved overall survival and disease-free survival of patients with BRAF V600 mutation-positive metastatic melanoma. Despite their survival benefits, small-molecule inhibitors of BRAF are associated with significant and sometimes severe treatment-related dermatological toxicity. The most common adverse skin reactions include photosensitivity, induced malignant lesions of the skin such as keratoacanthomas, squamous cell carcinoma and new primary melanomas, as well as keratinocyte proliferation and differentiation dysfunctions that can manifest as skin papillomas, hand-foot skin reaction, keratosis pilaris-like rash, acantholytic dyskeratosis and cysts of the milia type. In this article, we describe the clinical and histological features of the cutaneous manifestations induced by vemurafenib and dabrafenib on the basis of our clinical experience and a literature review. The crucial role of dermatologists in patient management is also highlighted.
Topics: Acantholysis; Alopecia; Antineoplastic Agents; Carcinoma, Squamous Cell; Codon; Drug Eruptions; Hand-Foot Syndrome; Humans; Imidazoles; Indoles; Keratoacanthoma; Keratosis; Melanoma; Neoplasm Proteins; Neoplasms, Second Primary; Nevus; Oximes; Panniculitis; Photosensitivity Disorders; Protein Kinase Inhibitors; Proto-Oncogene Proteins B-raf; Radiodermatitis; Skin Neoplasms; Sulfonamides; Vemurafenib
PubMed: 24034635
DOI: 10.1016/j.annder.2013.02.031 -
Cancers Feb 2024Cutaneous T-cell lymphomas (CTCLs) are a group of lymphoid neoplasms with high relapse rates and no curative treatment other than allogeneic stem cell transplantation... (Review)
Review
Cutaneous T-cell lymphomas (CTCLs) are a group of lymphoid neoplasms with high relapse rates and no curative treatment other than allogeneic stem cell transplantation (allo-SCT). CTCL is significantly influenced by disruption of JAK/STAT signaling. Therefore, Janus kinase (JAK) inhibitors may be promising for CTCL treatment. This study is a systematic review aiming to investigate the role of JAK inhibitors in the treatment of CTCL, including their efficacy and safety. Out of 438 initially searched articles, we present 13 eligible ones. The overall response rate (ORR) in the treatment with JAK inhibitors in clinical trials was 11-35%, although different subtypes of CTCL showed different ORRs. Mycosis fungoides showed an ORR of 14-45%, while subcutaneous-panniculitis-like T-cell lymphoma (SPTCL) displayed an ORR ranging from 75% to 100%. Five cases were reported having a relapse/incident of CTCL after using JAK inhibitors; of these, three cases were de novo CTCLs in patients under treatment with a JAK inhibitor due to refractory arthritis, and two cases were relapsed disease after graft-versus-host disease treatment following allo-SCT. In conclusion, using JAK inhibitors for CTCL treatment seems promising with acceptable side effects, especially in patients with SPTCL. Some biomarkers, like pS6, showed an association with better responses. Caution should be taken when treating patients with an underlying autoimmune disease and prior immunosuppression.
PubMed: 38473222
DOI: 10.3390/cancers16050861 -
Clinical Rheumatology Mar 2022Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) which preferentially infiltrates into subcutaneous adipose tissue is rare, however may mimic autoimmune diseases... (Review)
Review
Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) which preferentially infiltrates into subcutaneous adipose tissue is rare, however may mimic autoimmune diseases from the aspect of clinical manifestations. Here, we describe a 16-year-old young man, who initially presented with eyelid erythema and swelling, accompanied by fever and muscle and bone marrow involvement. He was preliminarily considered as a patient with classical dermatomyositis (DM), but finally diagnosed as SPTCL concomitant with paraneoplastic inflammatory myositis, confirmed by in total 8 times repeated biopsies at different sites. After systematically reviewing the literatures, we summarized the main features of SPTCL mimicking DM with eyelid edema as the presenting manifestation. The cautionary tale reminds rheumatologists of considering mimickers in patients with atypical autoimmune-like manifestations. Suitable biopsy is critical for diagnosis and improving prognosis.
Topics: Adolescent; Dermatomyositis; Diagnosis, Differential; Erythema; Eyelids; Humans; Lymphoma, T-Cell; Male; Panniculitis
PubMed: 34786628
DOI: 10.1007/s10067-021-05992-1 -
Skin Health and Disease Apr 2024Myelodysplastic syndrome (MDS) may present with specific skin lesions, such as leukaemia cutis, which is a well known poor prognostic marker of leukaemia with a high...
Myelodysplastic syndrome (MDS) may present with specific skin lesions, such as leukaemia cutis, which is a well known poor prognostic marker of leukaemia with a high risk of acute leukaemic transformation. However, less is known regarding non-specific cutaneous manifestations of MDS including the prevalence, types and their prognostic and therapeutic significance, which we aimed to determine through this systematic review. We searched electronic databases (PubMed, Medline and EMBASE) from inception up to 26 January 2023 for studies reporting cutaneous manifestations of MDS. Eighty eight articles (case reports = 67, case series = 21), consisting of 134 patients were identified. We identified 6 common cutaneous manifestations: neutrophilic dermatoses ( = 64), vasculitis ( = 21), granulomatous ( = 8), connective tissue disease (CTD) ( = 7; composed of dermatomyositis ( = 5), cutaneous lupus erythematosus ( = 1), and systemic sclerosis ( = 1)), panniculitis ( = 4), immunobullous ( = 1), and other ( = 29). Cutaneous features either occurred at time of MDS diagnosis in 25.3%, preceding the diagnosis in 34.7% (range 0.5-216 months), or after diagnosis in 40.0% (range 1-132 months). Prognosis was poor (40.2% death) with 34.1% progressing to acute myeloid leukaemia (AML). 50% of those with MDS who progressed to AML had neutrophilic dermatoses ( = 0.21). Myelodysplastic syndrome was fatal in 39.2% of neutrophilic dermatoses (median time from onset of cutaneous manifestation: 12 months), 50% of vasculitis (7.5 months), 62.5% of granulomatous (15.5 months) and 14.3% of CTD (7 months). Recognition of patterns of cutaneous features in MDS will improve early diagnosis and risk stratification according to subtype and associated prognosis.
PubMed: 38577044
DOI: 10.1002/ski2.323 -
Clinical Rheumatology Sep 2015MonoMAC syndrome is characterized by monocytopenia with susceptibility to nontuberculous mycobacterial infections. First recognized in 2011, it is caused by GATA2... (Review)
Review
MonoMAC syndrome is characterized by monocytopenia with susceptibility to nontuberculous mycobacterial infections. First recognized in 2011, it is caused by GATA2 mutations and can manifest as disseminated mycobacterial, fungal, and viral infections. While mortality rates for this disorder have been high, it has recently been successfully treated with haploidentical allogeneic stem cell transplant. Since approximately one third of patients may have rheumatologic symptoms, such as erythema nodosum, panniculitis, or arthralgias, rheumatologists may expect to encounter this newly described entity with increasing frequency.
Topics: Adult; Erythema Nodosum; Female; GATA2 Transcription Factor; Humans; Immunologic Deficiency Syndromes; Mutation; Panniculitis; Young Adult
PubMed: 25739845
DOI: 10.1007/s10067-015-2905-2