UNASSIGNED: Intravenous plasminogen replacement therapy for patients with plasminogen deficiency type 1 (hypoplasminogenemia) was recently approved for marketing in the US. In this case report, the authors describe a 33-year-old man with hypoplasminogenemia who developed nonhealing postsurgical wounds following trauma to his right hand despite receiving standard treatment for 4 months. The patient was enrolled in a compassionate-use protocol with intravenous plasminogen replacement therapy and experienced prompt resolution of surgical wounds. He was the first human patient to receive replacement therapy with plasminogen, human-tvmh in the US and first to demonstrate cutaneous wound healing in addition to resolution of ligneous lesions attributable to plasminogen deficiency type 1.

Perifolliculitis capitis abscedens et suffodiens (PCAS) is a refractory and recrudescent chronic inflammatory dermatosis of the scalp, which seriously affects the appearance and quality of life of patients. The treatment of PCAS is challenging, often leading to frustrating outcome. In this paper, we report a case of PCAS who received 20 % 5-aminolevulinic acid photodynamic therapy (ALA-PDT) combined with carbon dioxide (CO2) laser pretreatment. The skin lesions of this case showed complete clearance after 2 month, and there was no recurrence after 1 year of follow-up. To our knowledge, we presented the first successful regimen of ALA-PDT combined with CO2 laser therapy for PCAS.

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VEXAS syndrome is a new entity, described as the first one of a new class of hemato-inflammatory diseases. Through this article and based on the first case highlighted at the CHU of Liege, we offer you a review of the literature as well as an overview of different laboratory techniques used for the diagnosis of this syndrome.
Le syndrome de VEXAS est une nouvelle entité, décrite comme pionnière d’une nouvelle classe de maladies hémato-inflammatoires. Au travers de cet article et sur base du premier cas mis en évidence au CHU de Liège, nous vous proposons une revue de la littérature ainsi qu’un aperçu des différentes techniques de laboratoire permettant le diagnostic de ce syndrome.

暂无摘要。

VEXAS syndrome is an acquired autoinflammatory disease characterized in most cases by cytopenias and macrocytic anemia. Dyshematopoiesis is a frequent finding in chronic inflammatory conditions and therefore, cytopenias are not easily classified in VEXAS patients. Here we report a series of 7 patients affected by VEXAS associated cytopenias, treated at our center. The use of NGS, together with morphological assays, integrated with the WHO 2022 criteria, allowed to identify three subsets of VEXAS associated cytopenias: ICUS (idiopathic cytopenia of uncertain significance), CCUS (clonal cytopenia of uncertain significance) at high risk of clonal evolution, and MDS. This approach could help to better understand the nature of VEXAS associated cytopenias and to guide the use of specific targeted treatments in order to achieve long lasting responses.

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BACKGROUND: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is caused by mutations in the ubiquitin-activating enzyme1 (UBA1) gene and characterised by an overlap between autoinflammatory and haematologic disorders.
METHODS: We reported a case of a 67-year-Japanese man receiving peritoneal dialysis (PD) who had recurrent aseptic peritonitis caused by the VEXAS syndrome. He presented with unexplained fevers, headache, abdominal pain, conjunctival hyperaemia, ocular pain, auricular pain, arthralgia, and inflammatory skin lesions. Laboratory investigations showed high serum C-reactive protein concentration and increased cell count in PD effluent. He was treated with antibiotics for PD-related peritonitis, but this was unsuccessful. Fluorine-18-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography images demonstrated intense FDG uptake in his left superficial temporal artery, nasal septum, and bilateral auricles. The working diagnosis was giant cell arteritis, and he was treated with oral prednisolone (PSL) 15 mg daily with good response. However, he was unable to taper the dose to less than 10 mg daily because his symptoms flared up. Since Tocilizumab was initiated, he could taper PSL dose to 2 mg daily. Sanger sequencing of his peripheral blood sample showed a mutation of the UBA1 gene (c.122 T > C; p.Met41Thr). We made a final diagnosis of VEXAS syndrome. He suffered from flare of VEXAS syndrome at PSL of 1 mg daily with his cloudy PD effluent. PSL dose of 11 mg daily relieved the symptom within a few days.
CONCLUSIONS: It is crucial to recognise aseptic peritonitis as one of the symptoms of VEXAS syndrome and pay attention to the systemic findings in the patients.

BACKGROUND: Hematological malignancies have always been a challenge for scientists because there is a constant need to better define these entities. Myelodysplastic syndromes (MDS) are clonal hematopoietic disorders characterized by ineffective hematopoiesis. Cytogenetics and molecular findings are a prerequisite for these syndromes as they confirm the clonal nature of the disease. However, MDS is often linked to autoimmunity and inflammation as part of its pathogenesis. Recently, VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) linked these two in a single mutation, suggesting that the heterogeneity among hematological malignancies often demands a more personalized medicine by tailoring medical treatment to the individual characteristics of each patient.
METHODS: We present a case of VEXAS syndrome regarding a 63-year-old male patient who initially presented with episodes of low fever, polyarthritis of the knees and ankles, polymyalgia, and fatigue. His laboratory examinations revealed increased levels of serum inflammatory markers.
METHODS: Diagnosis was based on high clinical suspicion, laboratory findings, and vacuolization of the erythroid and myeloid precursors in the bone marrow evaluation. Mutational status of ubiquitin-like modifier activating enzyme 1 gene was positive with a 68.8% allelomorph frequency (rs782416867).
METHODS: Therapy was based on controlling inflammation with the use of glucocorticoids and treating MDS-related anemia with the use of erythropoietin.
RESULTS: Currently, the patient visits our department regularly. He is still receiving the aforementioned treatment. He did not mention any new incidents for the time being.
CONCLUSIONS: VEXAS syndrome as a newly identified entity might be often underestimated since its clinical presentation is notably diverse.

Keratosis follicularis spinulosa decalvans (KFSD) is a rare X-linked hereditary disorder characterized by the triad of follicular hyperkeratosis-photophobia-alopecia. The clinical heterogeneity makes the diagnosis difficult. To investigate the clinicopathologic and trichoscopic features of KFSD and to further clarify the essential requisites for the diagnosis, we conducted a retrospective study of patients with KFSD. The clinical information, histologic features, and trichoscopic findings were evaluated. Eight patients were from seven separate families. Two females were mother and daughter from the same family and the other six patients were male and represented sporadic cases. The average age of onset of alopecia was 21.25 years. Involvement of the scalp hairs leading to progressive scarring alopecia on the midline of the scalp with variable degrees of inflammation was the pathognomonic feature. It typically began after puberty. Vellus hair-associated follicular hyperkeratosis affected all of the patients. However, photophobia was not a constant feature. Histopathologic examination revealed disorders of the hair follicle with an acute-chronic inflammatory response. Follicular changes including fused infundibulum, the protrusion of the outer root sheath into the follicular canal, and a dilatation of the follicles at the isthmus level caused by the occlusion of keratin were observed. The trichoscopic features included perifollicular scaling, tufted hairs, and loss of follicular openings. In conclusion, terminal hair involvement, either scalp hairs, eyebrows, or eyelashes, and the hyperkeratosis of the follicle of vellus hairs is the diagnostic basis of KFSD. We hypothesize that follicular changes in histopathology are the primary event that trigger variable inflammation and further follicular destruction.