Differentiation between granulomatosis with polyangiitis (GPA) limited to the upper airways and cocaine-induced midline destructive lesion (CIMDL) may be particularly difficult because of their common histopathologic features and antineutrophil cytoplasmic antibody (ANCA) profiles. We herein present a case involving a young woman with an initial diagnosis of GPA based on upper and lower airway manifestations and constitutional symptoms, histopathologic evidence of granulomas, a positive cytoplasmic ANCA indirect immunofluorescent test result, and proteinase 3 positivity by enzyme-linked immunosorbent assay (ELISA). CIMDL was confirmed based on the appearance of a hard palate perforation, positivity for methylecgonine on urine toxicology, a positive perinuclear ANCA indirect immunofluorescent test result, and subsequent human neutrophil elastase (HNE) ANCA positivity by ELISA. Finally, based on the coexistence of CIMDL, constitutional symptoms, and lower airway manifestations, the diagnosis was modified to cocaine-induced GPA mimic. Urine toxicology for cocaine and HNE ELISA are indicated in young patients with GPA who develop limited airway disease to check for the presence of CIMDL and cocaine-/levamisole-induced ANCA-associated vasculitis. Continued abstinence from cocaine is the first-choice therapy for both CIMDL and cocaine-induced GPA mimic.

Objective: Rare disease Background: Parinaud oculoglandular syndrome is a unilateral granulomatous palpebral conjunctivitis associated with preauricular, submandibular, and cervical lymphadenopathies. Several infectious diseases can cause Parinaud oculoglandular syndrome, usually with a conjunctival entry. The most common underlying pathology is cat scratch disease, followed by the oculoglandular form of tularemia. Diagnosis is usually a serious challenge as these infections are themselves rare. On the other hand, Parinaud oculoglandular syndrome may be a rare manifestation of more common disorders (eg, tuberculosis, syphilis, mumps, herpes simplex and Epstein -Barr virus, adenovirus, Rickettsia, Sporothrix, Chlamydia infections). Case Report: We present the case of a 66 -year -old man with granulomatous conjunctivitis and ipsilateral preauricular, submandibular, and upper cervical lymphadenopathies following a superficial corneal injury. Although the systematic amoxicillin/clavulanic acid and metronidazole antibiotic therapy started immediately at admission, the suppuration of the lymph nodes required surgical drainage. Based on his anamnesis (sheep breeding; a twig scratching his eye 2 days before the initial attendance) and symptoms, a zoonosis, namely the oculoglandular form of tularemia, was suspected, empiric ciprofloxacin therapy was administered, and the patient recovered without sequelae. The Francisella tularensis infection was eventually confirmed by microagglutination serologic assay. Conclusions: If Parinaud oculoglandular syndrome is diagnosed and cat scratch fever as the most common etiology is not likely, other zoonoses, especially the oculoglandular form of tularemia, should be suspected. Serology is the most common laboratory method of diagnosing tularemia. Empiric fluoroquinolone (ciprofloxacin) or aminoglycoside (gentamicin or streptomycin) antibiotic therapy should be started immediately at the slightest suspicion of oculoglandular tularemia.

Background: Hereditary hemorrhagic telangiectasia (HHT) is an inherited vascular bleeding disorder. The most common symptoms are recurrent, severe nosebleeds that occasionally necessitate intervention by an ENT (Ear, Nose, and Throat) specialist, as well as iron-deficiency anemia. Telangiectasia is typically located in the nasal cavity, lips, tongue, fingertips, and the gastrointestinal mucosa. Arteriovenous malformations (AVMs) are located in internal organs (brain, lungs, liver, etc.). The family history is positive for HHT. The diagnosis is based on the Curacao criteria. The endoglin and activin receptor-like kinase 1 genes (ENG and ACVRL1) are the most common mutation sites, leading to elevated endothelial growth factor (VEGF) levels. Methods: We conducted a retrospective analysis in the Department of Internal Medicine, Division of Hematology, and Center of Expertise for Rare Diseases at the University of Debrecen, spanning the period from 2010 to 2025. Records of patients referred with HHT were reviewed concerning demographic data, clinical presentations, laboratory findings, and treatment approaches. To evaluate management options, epistaxis severity was assessed using the Epistaxis Severity Score (ESS). Results: 48 HHT patients (21 male and 27 female) were included in this retrospective study. Genetic testing was positive in each case, showing mutations in the ENG (HHT1 subgroup) or ACVRL1 (HHT2 subgroup) genes. Most of the patients are followed-up with in our department. ESS was calculated at baseline and 6 months after antiangiogenic treatment by two independent physicians. Detailed computed tomography (CT) was performed in all patients. Seven patients were administered desmopressin, a synthetic analog of antidiuretic hormone (ADH), based on our previous experience in reducing bleeding in von Willebrand disease. Antiangiogenic therapy with thalidomide (50 mg oral tablets) was used in 24 patients, while bevacizumab was administered to 5 patients. Most patients experienced a remarkable decrease in epistaxis severity and a reduction in the need for transfusions (ESS before treatment: HHT1 patients, 4.15 ± 1.91 vs. ESS after treatment, 2.62 ± 0.99; HHT2 patients, 3.79 ± 3.19 vs. 2.02 ± 1.91). Subgroup analysis using paired ESS data showed a significant reduction in ESS in both HHT1 and HHT2 patients (p = 0.003 and p = 0.043, respectively). Bevacizumab further reduced the ESS, but the few cases were not suitable for statistical analysis. Serum iron levels significantly increased after antiangiogenic treatment in the HHT2 group (p = 0.01). Conclusions: HHT is a rare vascular bleeding disorder. Daily nosebleeds impair the patients’ quality of life and sometimes lead to severe transfusion-dependent iron-deficient anemia. Frequent hospitalization places a significant burden on the healthcare system. Thus, we have used treatment options for HHT patients that primarily act by inhibiting VEGF, and these treatment modalities have yielded successful results in our hands.

Bevezetés: A bőr rosszindulatú daganatai a leggyakoribb humán neoplasmák, melyeknek 90%-a a fej-nyaki régióban jelentkezik. Elsődleges terápiájuk a műtéti eltávolítás, melynek során gyakran alakul ki valódi bőrhiány. Ennek zárása ideális esetben színében, vastagságában és szőrtüszőtartalmában a laesio kiindulási helyével megegyező helyi lebenyekkel történik. Célkitűzés: Jelen munkánkban egy random vérellátású helyi lebeny, a kettős bárdlebeny alkalmazásával kapcsolatos első tapasztalatainkról számolunk be. Módszer: A 2021. november és 2023. június között a fej-nyaki bőrtumor eltávolítása utáni defektus kettős bárdlebennyel történő zárásán átesett betegeket prospektív módon követtük. Vizsgáltuk a primer tumor lokalizációját, méretét, az anesztézia módját, továbbá a korai és késői szövődmények előfordulását. A műtét után legalább 6 hónapig követett betegek esetében egy, a műtét utáni statusra vonatkozó elégedettségi kérdőívet töltettünk ki. Eredmények: A vizsgált időszakban 13 beteget operáltunk a kettős bárdlebeny technikájával, átlagéletkoruk 79,6 év volt. A leggyakoribb lokalizáció a skalp volt, a reszekátumok átlagos mérete 40,5 × 32,1 mm volt. Valamennyi esetben R0-reszekciót végeztünk. 1 esetben a defektus teljes zárása nem volt lehetséges. Korai szövődményként 2 betegben részleges lebenynekrózist, késői következményként 2 betegben mimikai mozgászavart észleltünk. A betegek számára a legzavaróbb következmény a hegesedés volt. Megbeszélés: A helyi lebeny kiválasztásakor a defektus elhelyezkedése, mérete, mélysége, a bőr elaszticitása, a defektus környezetében mobilizálható bőr mennyisége, a Langer-féle erővonalak és a ráncok iránya, a szőrzet (hajas fejbőr és szemöldök), valamint az arc esztétikai egységeinek és alegységeinek határai a meghatározó tényezők. Amennyiben a kettős bárdlebeny kialakításának alapelveit betartjuk (hossz és szélesség aránya, a lebeny nyelének szélessége a defektus méretéhez képest), elfogadható szövődményrátával rendelkező, megbízható módszer áll rendelkezésünkre. Következtetés: A kettős bárdlebeny mint random vérellátású helyi lebeny különösen alkalmas a hajas fejbőr és a homlok területén elhelyezkedő 2–5 cm-es bőrdefektusok zárására. Orv Hetil. 2023; 164(44): 1755–1763.