1 citations
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April 2024 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” In this case report, the authors concluded that cutaneous lupus erythematosus was induced by the PD-1 inhibitor tislelizumab during treatment for metastatic lung adenocarcinoma, despite initial remission and treatment adjustments.
April 2026 in “Human Genome Variation” This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
27 citations
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September 1992 in “The Lancet” ICL is a condition with low CD4+ T cells like AIDS but not caused by HIV, and normal CD4+ T cell counts may vary between men and women.
This report presents a case of IFAP syndrome with the typical symptoms of alopecia universalis, severe photophobia, and follicular ichthyosis, but provides no additional clinical findings or conclusions.
1 citations
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April 2023 in “Indian Journal of Dermatology Venereology and Leprology” This case report describes a young adult with primary follicular mucinosis, successfully treated with topical tacrolimus, resulting in resolution without sequelae.
1 citations
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November 2022 in “International journal of trichology” This case report describes a 6-year-old girl with IFAP syndrome who showed good improvement in cutaneous symptoms after one month of acitretin treatment.
8 citations
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December 2023 in “International Journal of Molecular Sciences” In this study, successful treatment outcomes with platelet-rich plasma injections in patients with IC/BPS and rUTI were associated with specific cytokine concentrations, particularly lower TNF-α levels.
14 citations
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February 2023 in “Frontiers in immunology” This review discusses the range of cutaneous immune-related adverse events induced by immune checkpoint inhibitors and the proposed mechanisms underlying these skin reactions, but reports no new clinical results.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
22 citations
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March 2017 in “Transplant Infectious Disease” This case report describes successful treatment of generalized trichodysplasia spinulosa with leflunomide in a patient undergoing immunosuppressive therapy following solid organ transplantation.
September 2023 in “Journal of the American Academy of Dermatology” This study found that patients receiving immune checkpoint inhibitors who have a history of psoriasis are at a higher risk for developing gastrointestinal and endocrine toxicities within one year compared to those without psoriasis.
13 citations
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July 1996 in “Annals of Internal Medicine” In this letter, thrombocytosis was associated with the use of low-molecular-weight heparin in a patient with adrenal cortical carcinoma, highlighting a potential side effect of this treatment.
October 2018 in “The American journal of gastroenterology” This case study highlights the importance of early detection and management of pembrolizumab-induced hepatitis, suggesting that early steroid treatment could potentially prevent severe complications.
11 citations
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December 2010 in “American journal of transplantation” This study describes three female islet transplant recipients who unexpectedly developed alopecia areata about 7 years post-transplant, with a possible link to immunosuppressive treatment regimens.
This study found that mutations in the TMPRSS6 gene affect the ability of matriptase-2 to inhibit hepcidin, which may impact the molecular pathogenesis of iron-refractory iron-deficiency anemia.
January 2023 in “Revista Paulista de Pediatria” This case study reported the first diagnosis of IFAP syndrome in Brazil with molecular investigation, identifying a rare MBTPS2 gene variant and expanding the known mutational spectrum associated with the condition.
1 citations
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October 2024 in “Indian Dermatology Online Journal” This case report describes a 36-year-old man who developed generalized eruptive histiocytosis on the scalp after undergoing nine platelet-rich plasma treatments for hair loss, likely triggered by injection-related trauma and inflammation.
18 citations
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January 2016 in “Journal of Clinical Medicine Research” This case report describes a patient with SLE who developed acute inflammatory demyelinating polyneuropathy, experiencing significant improvement after treatment with intravenous immunoglobulin, methylprednisolone, and cyclophosphamide.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” This article reviews IFAP syndrome, an X-linked genetic disorder characterized by ichthyosis follicularis, alopecia, and photophobia, and reports no new clinical findings.
December 2023 in “Journal of clinical medicine” This study reports the case of an elderly patient with a keratosis pilaris-like skin eruption after beginning treatment with imatinib for chronic myeloid leukemia, discussing similar skin reactions to BCR-ABL inhibitors and exploring potential mechanisms behind these adverse cutaneous reactions.
September 2023 in “Journal of the American Academy of Dermatology” CTP-543 is generally safe for treating alopecia areata.
November 2022 in “Journal of the Endocrine Society” This case study reports that immunotherapy with ipilimumab and nivolumab induced hypophysitis in a patient with renal cell carcinoma, emphasizing the need for careful monitoring of endocrine function in such treatments.
1 citations
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September 2013 in “The Journal of Dermatology” An 8-year-old girl developed a rare skin condition in a linear pattern on one side of her body after a lung infection, which improved with treatment.
2 citations
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December 2023 in “Journal of clinical immunology” This study describes the positive effects of the JAK inhibitor ruxolitinib in treating autoimmune manifestations in three patients with autoimmune polyendocrine syndrome type-1 over a period of at least 30 months, with excellent tolerance and no adverse events observed.
January 2025 in “Frontiers in Immunology” This case report details a rare instance of a young male with coexisting autoimmune polyendocrine syndrome type 2 and anti-GAD65 antibody-associated stiff person syndrome, where symptoms improved by adding intravenous immunoglobulin therapy, emphasizing the importance of awareness for early diagnosis and treatment.
1 citations
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April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that oral tofacitinib improved disease activity in patients with lichen planopilaris, suggesting it may be a promising treatment option for this condition.
19 citations
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March 2016 in “British journal of dermatology/British journal of dermatology, Supplement” In this study, evidence that trichodysplasia spinulosa-associated polyomavirus targets follicular keratinocytes was observed in a pediatric case, suggesting these cells as the primary viral target.
39 citations
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January 2008 in “World Journal of Gastroenterology” This report documents the first known case of acute inflammatory demyelinating polyneuropathy potentially linked to pegylated interferon-alpha 2a in a woman undergoing treatment for chronic hepatitis C.
July 2025 in “Indian Dermatology Online Journal” This study reports a unique case of trichotillomania incognita in an adult female that mimicked female pattern hair loss, highlighting the importance of trichoscopy and histology for accurate diagnosis.
6 citations
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March 2022 in “Actas Dermo-Sifiliográficas” This review discusses the characteristics and management of cutaneous immune-related adverse events from immune checkpoint inhibitors and notes their potential association with a favorable cancer treatment response.