Nives Pustišek

Respiratory tract involvement in a child with epidermolysis bullosa simplex with plectin deficiency: A case report

We report a rare case of a child with epidermolysis bullosa simplex (EBS) with plectin deficiency but without muscular dystrophy, with severe lesions of the oral cavity, oropharyngeal, hypopharyngeal, laryngeal, tracheal and bronchial mucosa. Case report and a review of the world literature are used. The literature review revealed only five similar patients with EBS without muscular dystrophy complicated by respiratory involvement. This paper highlights the potentially serious complications of the EB in the form of breathing, swallowing and speech difficulties and describes the specific problems encountered in the treatment of this patient. Epidermolysis bullosa (EB) is a group of severe hereditary diseases, primarily of the skin, but which can also involve the respiratory and gastrointestinal tract mucosa. Respiratory tract involvement is usually only found in certain types of EB. The oral cavity and oropharynx are involved more frequently than the hypopharynx, larynx and trachea. Involvement of laryngeal and tracheal mucosa is generally associated with an increased morbidity and mortality, numerous complications and therapeutic difficulties, and is more common in junctional EB and dystrophic EB than in EBS. We present a rare case of a child with EBS and plectin deficiency with pronounced lesions of respiratory tract mucosa from the oral cavity to the bronchi and even extending into the trachea. Deciding on tracheotomy requires thorough consideration and should not be taken lightly.

Akutni hemoragijski edem dojenčadi

Akutni hemoragijski edem dojenčadi histološki je leukocitoklastični vaskulitis malih krvnih žila, najčešće postkapilarnih venula dermisa koje pokazuju infi ltraciju neutrofi lima s fragmentiranim jezgrama (1). Zbog sličnosti bolest se smatrala inačicom purpure Henoch-Schönlein (2), ali riječ je o zasebnom kliničkom entitetu (3). Ovo stanje tipično zahvaća dojenčad i malu djecu u dobi od šest do 24 mjeseca. Klinički se manifestira kožnim lezijama, vrućicom i edemom. Kožne lezije se odnose na palpabilnu purpuru koja se najčešće javlja na obrazima, uškama i ekstremitetima (Slika 1). Edem ima istu distribuciju kao kožne promjene. Vrućica može biti prisutna, no najčešće nije visoka. Za razliku od purpure Henoch-Schönlein zahvaćanje visceralnih organa je rijetko (4). Dojenčad je izvrsnog općeg stanja. Etiologija je nepoznata, no u sedamdeset posto slučajeva bolesti prethodi respiratorna, gastrointestinalna ili infekcija mokraćnih putova, a u deset posto slučajeva dojenčad je prethodno cijepljena.

PReS-FINAL-2256: Panniculitis revealing quantitative alpha 1 antitrypsine deficiency

Panniculitis can arise from many underlying causes. Potential causes include connective tissue disease such as systemic lupus erythematosus and scleroderma, lymphoproliferative disorders, pancreatic disease, gout, chronic kidney disease, alpha 1-antitrypsin (alpha1 AT) deficiency and adverse reactions to medications. Alpha 1 AT deficiency is one of the most common hereditary disorders of Caucasians and Europeans, and commonly associated with pulmonary and hepatic injury. Panniculitis is an uncommon first manifestation of this deficiency, with fewer than 100 cases reported in the English-language scientific literature.

Pustišek N., Babić I., Kljenak A., Striber N., Wounds in children and epidermolysis bullosa

Bulozne epidermolize skupina su nasljednih bolesti karakteriziranih pojavom mjehura na koži i sluznicama kao posljedicom genetskih defekata u strukturnim proteinima kože. Klinicka slika pojedinih oblika i podoblika bolesti može bitno varirati. Terapijski pristup ovisi o obliku bolesti, jacini kožnog i sistemnog zahvacanja i sastoji se od suportivne terapije kutanih i ekstrakutanih manifestacija, te zahvaca multidisciplinarni pristup strucnjaka razlicitih specijalnosti. Njega kože ukljucuje zastitu od potencijalnih trauma, pravilnu njegu i lijecenje mjehura i rana te redovite dermatoloske kontrole zbog ranog otkrivanja kožnih tumora.