Toksična epidermalna nekroliza inducirana ibuprofenom - prikaz bolesnika

Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe, life-threatening mucocutaneous hypersensitivity reactions. The inflammatory response is mediated by cytotoxic T lymphocytes and NK (natural killer) cells with cytotoxic proteins and cytokines as mediators in the onset of cell apoptosis. Drugs are responsible for about 95% of cases of toxic epidermal necrolysis. Although non-steroidal anti-inflammatory drugs (NSAID) are classified as drugs that can potentially lead to this hypersensitivity reaction, a small number of cases have been described in the literature regarding the occurrence of this reaction to the use of ibuprofen. We present the case of a 58-year-old man who developed symptoms of TEN seven days after using ibuprofen. The treatment of toxic epidermal necrolysis is still a matter of debate. Given that there is no uniform protocol for treatment, and the lethal outcome in such conditions occurs in about 40% of cases, each presented case is significant in terms of considering the effectiveness and improvement of the therapeutic approach.Stevens-Johnsonov sindrom (SJS) i toksična epidermalna nekroliza (TEN) teške su, po život opasne, mukokutane reakcije preosjetljivosti. Inflamatorni odgovor je posredovanom citotoksičnim T-limfocitima i NK (engl. natural killer) stanicama uz citotksične proteine i citokine kao posrednike u nastanku stanične apoptoze. Lijekovi su odgovorni za oko 95% slučajeva toksične epidermalne nekrolize. Iako se nesteroidni protuupalni lijekovi (NSAIL) svrstavaju u lijekove koji potencijalno mogu dovesti do ove reakcije preosjetljivosti, u literaturi je opisan mali broj slučajeva u vezi s nastankom ove reakcije na primjenu ibuprofena. Prezentiramo slučaj 58-godišnjeg muškarca kojemu su se simptomi TEN-a pojavili sedam dana nakon početka primjene ibuprofena. Tretman toksične epidermalne nekrolize i dalje je predmetom rasprava. Budući da ne postoji jedinstven stav i protokol za liječenje, a letalni ishod u ovakvim se stanjima događa u do 40% slučajeva, svaki je prezentirani slučaj značajan u pogledu razmatranja učinkovitosti i poboljšanja terapijskog pristupa

PAPA sindrom – dijagnostički i terapijski put od pedijatrijskog do adultnog reumatologa

PAPA syndrome (Pyogenic Arthritis, Pyoderma gangrenosum and Acne) is an autosomal dominant, hereditary autoinflammatory disease resulting from mutations in the PST PIP1/CD2BP1 gene on chromosome 15q. The disease begins in childhood, most often from the age of 2 to 11, and it is characterised by a triad of symptoms: pyogenic (sterile) arthritis, pyoderma gangrenosum and acne. The disease usually begins with arthritis and is rarely recognised in the initial stage. The appearance of skin symptoms of the disease, either acne or pyoderma gangrenosum, along with the previously existing arthritis, should arouse suspicion of the existence of PAPA syndrome and direct doctors to perform further genetic testing. The triad of symptoms does not always have to be present, but the presence of two of the three symptoms with a confirmed gene mutation is a sufficient criterion for the diagnosis of the disease. Biological drugs have shown the greatest effectiveness in treatment, and IL1 inhibitors or TNF alpha inhibitors are most often used medications. In later life, the joint manifestations gradually calm down, but the skin manifestations can last for many years with frequent relapses and remissions even with applied therapy, which makes this syndrome a great challenge for the treatment of this disease. Considering the small number of cases with PAPA syndrome described in the literature, we present to you an interesting case of a twenty five-year-old patient with this disease and his challenging diagnostic and therapeutic path from childhood to adulthood.PAPA sindrom (piogeni artritis, pyoderma gangrenosum i akne) je autosomno dominantna, nasljedna autoinflamatorna bolest koja je posljedica mutacije gena PST PIP1/CD2BP1 na kromosomu 15q. Bolest najčešće počinje u djetinjstvu, od druge do jedanaeste godine života, a karakterizira ju trijas simptoma: piogeni (sterilni) artritis, pyoderma gangrenosum i akne. Bolest obično počinje artritisom i rijetko se prepoznaje u ranim fazama bolesti. Pojava kožnih simptoma bolesti, bilo akni ili pyoderma gangrenosum, uz prethodno postojeći artritis, trebala bi pobuditi sumnju na postojanje PAPA sindroma te uputiti liječnike na daljnje genetsko testiranje. Trijas simptoma ne mora uvijek biti prisutan, ali postojanje dva od tri simptoma uz potvrđenu mutaciju gena dovoljan je kriterij za dijagnozu bolesti. veću učinkovitost u liječenju pokazali su biološki lijekovi, a najčešće su korišteni inhibitori IL-1 i TNF alfa. U kasnijoj životnoj dobi zglobne se manifestacije postupno smiruju, ali kožne manifestacije mogu trajati godinama s čestim relapsima i remisijama čak i uz uključenu terapiju, što ovaj sindrom čini velikim izazovom za liječenje. S obzirom na mali broj slučajeva s PAPA sindromom opisanih u literaturi, predstavljamo Vam zanimljiv slučaj dvadesetpetogodišnjeg bolesnika s ovom bolešću i njegov zahtjevan dijagnostički i terapijski put od djetinjstva do odrasle dobi