Upadacitinib for Successful Treatment of Alopecia Universalis in a Child: A Case Report and Literature Review.
Ontology highlight
ABSTRACT:
SUBMITTER: Yu D
PROVIDER: S-EPMC10108610 | biostudies-literature | 2023 Apr
REPOSITORIES: biostudies-literature
Publications
Upadacitinib for Successful Treatment of Alopecia Universalis in a Child: A Case Report and Literature Review.
Acta dermato-venereologica 20230404
Similar Datasets
Project description:Bullous pemphigoid (BP) is a rare, life-threatening autoimmune blistering disease with pruritus and tension blisters/bullous as the main clinical manifestations. Glucocorticosteroids are the main therapeutic agents for it, but their efficacy is poor in some patients. Tofacitinib, a small molecule agent that inhibits JAK1/3, has shown incredible efficacy in a wide range of autoimmune diseases and maybe a new valuable treatment option for refractory BP. To report a case of refractory BP successfully treated with tofacitinib, then explore the underlying mechanism behind the treatment, and finally review similarities to other cases reported in the literature. Case report and literature review of published cases of successful BP treatment with JAK inhibitors. The case report describes a 73-year-old male with refractory BP that was successfully managed with the combination therapy of tofacitinib and low-dose glucocorticoids for 28 weeks. Immunohistochemistry and RNA sequencing were performed to analyze the underlying mechanism of tofacitinib therapy. A systematic literature search was conducted to identify other cases of treatment with JAK inhibitors. Throughout the 28-week treatment period, the patient experienced clinical, autoantibody and histologic resolution. Immunohistochemical analysis showed tofacitinib significantly decreased the pSTAT3 and pSTAT6 levels in the skin lesions of this patient. RNA sequencing and immunohistochemical testing of lesion samples from other BP patients identified activation of the JAK-STAT signaling pathway. Literature review revealed 17 previously reported cases of BP treated with four kinds of JAK inhibitors successfully, including tofacitinib (10), baricitinib (1), upadacitinib (3) and abrocitinib (3). Our findings support the potential of tofacitinib as a safe and effective treatment option for BP. Larger studies are underway to better understand this efficacy and safety.
2024-11-13 | GSE278926 | GEO
Project description:Alopecia universalis (AU) congenital, known as generalized atrichia, is a severe form of autosomal recessive alopecia that results in complete hair loss of scalp and body. Mutations in the human hairless gene (HR) are associated with the phenotype of the disease. A consanguineous couple who had a child with the generalized atrichia sign referred to us for genetic counseling. According to the patient's symptoms and after thorough examination and history taking, the HR gene was the candidate gene to be assessed and analyzed. For this purpose targeted primers were designed for all exons of the HR gene followed by running PCR for exons amplification. Finally, the PCR products were sequenced. Whole-gene sequence analysis revealed a nonsense homozygous mutation in exon 6 that, according to the ACMG guide, is a pathogenic variant. Sequence analysis of the exon in parents reveals that they are heterozygout for the non-sense mutation, as well.
| S-EPMC8410955 | biostudies-literature
Project description:Fonsecaea monophora is a species of Fonsecaea that belongs to Chaetothyriales. It is usually isolated from tropical and subtropical regions, causing reactive inflammation, skin abscesses, and pain. Cerebral infection caused by F. monophora is rare but often fatal. Diagnosing this disease at an early stage is difficult, and appropriate antifungal therapy is often delayed as a result. We report the case of a 53-year-old woman with type 2 diabetes who presented with a headache 2 months ago and progressive right-sided weakness of 1 month's duration. Magnetic resonance imaging revealed a space-occupying lesion in the left frontal lobe and corpus callosum. The cystic mass was removed by surgical intervention, and the identification of the sample based on sequencing of the internal transcribed spaced region in BLAST-N search showed that the sequences producing most significant alignments were F. monophora or similar (query cover 99%, E value 0.0, per ident 99.84). The patient was treated with a 3-month course of twice daily voriconazole, leading to complete recovery.
| S-EPMC10859812 | biostudies-literature
Project description:Alopecia universalis is a severe, difficult to treat variant of alopecia areata that results in loss of hair on the scalp, eyebrows, eyelashes, and extremities. Deucravacitinib, a selective TYK2 inhibitor, has been recently approved in Canada, opening the door to novel uses of the drug. We present the case of a patient known for psoriasis who developed alopecia universalis resistant to many interventions (topical minoxidil and topical, intralesional, and systemic corticosteroids). We report the first case of successful rapid hair regrowth after starting deucravacitinib, which should prompt further inquiry into the use of TYK2 inhibitors in the management of alopecia areata.
| S-EPMC10687936 | biostudies-literature
Project description:Hemoptysis caused by Parvimonas micra: case report and literature review
| PRJEB72347 | ENA
Project description: Not available
| S-EPMC9543066 | biostudies-literature
Project description:Crizotinib is a first-line tyrosine kinase inhibitor used for the treatment of metastatic lung cancer. Crizotinib-induced hepatotoxicity is a rare event. We report a case of a 46-year-old female with a history of metastatic lung cancer who presented with acute liver failure after being on crizotinib for two months. The medication was discontinued, and she was treated with N-acetylcysteine for seven days. Her liver function tests returned to normal limits after 26 days after admission. The precise mechanism and risk factors of crizotinib-induced hepatotoxicity remain unknown. Physicians should be aware of the potentially lethal side effect caused by crizotinib.
| S-EPMC7085870 | biostudies-literature
Project description:COVID-19 vaccines have positively changed the course of the pandemic. They entered the market after only one year of the initial trials, which that yielded positive results in terms of safety and efficacy. However, after inoculating billions of people in the most extensive vaccination campaign worldwide, mild but common and some rare but potentially fatal adverse events have been reported. Among several self-reported adverse events, hair loss and alopecia have been linked to COVID-19 mRNA or viral vector vaccines. We tracked and followed a series of five cases with post-vaccine telogen effluvium and alopecia development in Ecuador. Here, we reported the clinical presentation of two women and three men with the diagnosis of post-vaccine hair loss. All patients received a heterologous vaccination scheme (mRNA and attenuated virus vaccine) with an additional viral vector booster associated with the apparition of telogen effluvium and alopecia universalis between 3 and 17 days after the vaccine was administered.
| S-EPMC9968192 | biostudies-literature
Project description:Medulloblastoma is one of the most common pediatric central nervous system malignancies worldwide, and it is characterized by frequent leptomeningeal metastasizing. We report a rare case of primary leptomeningeal medulloblastoma of an 11-year-old Caucasian girl with a long-term disease history, non-specific clinical course, and challenges in the diagnosis verification. To date, 4 cases of pediatric primary leptomeningeal medulloblastoma are reported, and all of them are associated with unfavorable outcomes. The approaches of neuroimaging and diagnosis verification are analyzed in the article to provide opportunities for effective diagnosis of this disease in clinical practice. The reported clinical case of the primary leptomeningeal medulloblastoma is characterized by MR images with non-specific changes in the brain and spinal cord and by 18FDG-PET/CT images with diffuse heterogeneous hyperfixation of the radiopharmaceutical along the whole spinal cord. The immunohistochemistry and next-generation sequencing analyses of tumor samples were performed for comprehensive characterization of the reported clinical case.
| S-EPMC9309486 | biostudies-literature
Project description:As the number of implanted left ventricular assist devices (LVADs) used increases, the frequency of chronic complications encountered also increases. The pause of blood flow in the outflow graft is a rare, but fatal, complication. The aim of this article was to present the case of a patient in whom HeartWare outflow graft occlusion was removed by balloon angioplasty and to examine the treatment modalities of HeartWare outflow graft occlusions that have been percutaneously performed to date. The literature was searched for percutaneous interventions on outflow grafts of the left ventricular assist devices. The results of six patients who underwent interventions on outflow grafts were analyzed. Three of six patients with HeartWare outflow graft stenosis were treated with covered stents, while the remaining three were treated with bare metal stents. All procedures were applied successfully. Percutaneous interventions can be performed with appropriate equipment in patients with HeartWare outflow graft stenosis or total occlusion.
| S-EPMC6280264 | biostudies-literature