Mastocytosis in children

Mastocitoze predstavljaju heterogenu skupinu bolesti, a obilježene su proliferacijom i nakupljanjem mastocita u različitim tkivima. Razlikujemo kožne mastocitoze, u kojih se nakupljanje mastocita nalazi isključivo u koži, od sistemske mastocitoze kod koje je proliferacija mastocita prisutna u koštanoj srži te u drugim organima kao što su gastrointestinalni trakt, limfni čvorovi, jetra i/ili slezena. U djece se javljaju gotovo isključivo kožne mastocitoze, za razliku od odraslih, u kojih se dijagnosticira sistemska mastocitoza. Izgled i rasprostranjenost kožnih promjena, kao i simptomi, mogu značajno varirati. Simptomi su posljedica oslobađanja upalnih medijatora iz mastocita, najčešće svrbež te crvenilo i urtike. Nužne su redovite kontrole ovih bolesnika, a organomegalija, značajno povišene vrijednosti serumske triptaze, kao i prisutnost KIT mutacije u perifernoj krvi, pomaže u odluci u kojeg je bolesnika nužno učiniti biopsiju koštane srži. Liječenje je najčešće simptomatsko, usmjereno na izbjegavanje okidača i smanjivanje simptoma bolesti koji su posljedica oslobađanja upalnih medijatora iz mastocita, najčešće primjenom H1i H2 blokatora, primjenom lokalnih kortikosteroida i pimekrolimusa.Mastocytosis are a heterogeneous group of diseases characterized by proliferation and accumulation of mastocytes in various tissues. Cutaneous mastocytosis is diagnosed if the accumulation of mastocytes is detected only in the skin. In cases of systemic mastocytosis the mastocytes accumulate in the bone marrow, gastrointestinal tract, lymph nodes, liver and/or spleen. Contrary to adults, in who systemic mastocytosis is the most common type of mastocytosis, in childhood the vast majority of patients are diagnosed with cutaneous forms of the disease. The type, distribution and extent of skin lesions, as well as symptoms, can vary from patient to patient. Symptoms are due to release of inflammatory mediators from mastocytes, most often itch, redness of the skin and wheals. Regular follow-ups are necessary, while organomegaly, significantly elevated serum tryptase levels and/or detection of KIT mutation in peripheral blood help in decision if and when to perform bone marrow biopsy. Treatment is aimed toward avoidance of triggers, and alleviation of symptoms caused by mast cell mediators, usually H1 and H2 blockers, as well as topical corticosteroids and pimecrolimus application

Modern practical approach to the treatment of pediatric acne

Akne u pedijatrijskoj dobi česta je upalna bolest kože koja pogađa djecu i adolescente. Karakterizira je prisutnost otvorenih i zatvorenih komedona, upalnih papula, papulopusta te nodusa i cističnih lezija na licu, vratu i drugim dijelovima tijela. Iako točan uzrok pedijatrijske akne nije u potpunosti razjašnjen zbog multifaktorijalne etiologije, hormonalne promjene, genetska predispozicija i određeni životni čimbenici mogu doprinijeti njezinom razvoju. Liječenje pedijatrijske akne uključuje kombinaciju pravilne njege kože i primjenu lijekova. Važno je uspostaviti dnevnu rutinu njege kože koja uključuje nježno čišćenje, hidratizaciju i korištenje nekomedogenih proizvoda. Topikalni lijekovi poput benzoil peroksida i retinoida mogu pomoći u smanjenju upale te preveniraju nastanak novih komedona. U težim slučajevima mogu se propisati oralni antibiotici, isotretinoin ili hormonalna terapija u određenim indikacijama. Roditelji i skrbnici imaju važnu ulogu u podršci djeci i adolescentima s akne. Važno je pružiti emocionalnu podršku i educirati djecu o pravilnoj njezi kože te ispravnom provođenju propisane terapije kao i nužnosti provođenja terapije održavanja po izliječenju. Poticanje zdravog načina života, uključujući uravnoteženu prehranu, redovitu tjelesnu aktivnost i smanjenje stresa, također može doprinijeti boljem terapijskom ishodu. Iako je akne često frustrirajuća bolest i utječe na samopouzdanje, bitno je naglasiti da je to stanje koje se može liječiti. Pravilnim pristupom većina slučajeva pedijatrijske akne može se na vrijeme prepoznati i liječiti te time omogućiti djeci čistu i zdravu kožu bez popratnih komplikacija i posljedica poput ožiljkavanja. Važno je na vrijeme konzultirati dermatologa radi postavljanja točne dijagnoze i uspostavljanja personaliziranog plana liječenja pedijatrijske akne. U slučajevima vrlo teških oblika akne koji slabo reagiraju na terapiju te prisutnih drugih znakova i simptoma popratnoga sistemskog zbivanja, hormonalnog poremećaja ili sumnje na rijetke autoinflamatorne sindrome nužno je pacijente multidisciplinarno liječiti, što uključuje suradnju s endokrinolozima, ginekolozima, imunolozima i drugima užim pedijatrijskim subspecijalistima.Pediatric acne is a common inflammatory skin disease that affects children and adolescents. It is characterized by the presence of blackheads, whiteheads, inflammatory papules, papulopustules, nodules and cysts on the face, neck, and other body areas. While the exact cause of pediatric acne is not fully understood because of its multifactorial etiology, hormonal changes, genetics, and certain lifestyle factors can contribute to its development. Treating pediatric acne involves a combination of skincare practices and medications. It is important to establish a daily skincare routine that includes gentle cleansing, moisturizing, and the use of non-comedogenic products. Topical medications, such as benzoyl peroxide and retinoids, can help reduce inflammation and prevent formation of comedones. In more severe cases, oral antibiotics, isotretinoin or hormonal therapy in certain indications, may be prescribed. Parents and caregivers play a crucial role in supporting children with pediatric acne. It is important to provide emotional support and educate children about proper skincare practices. Encouraging a healthy lifestyle, including a balanced diet, regular exercise, and stress management, can also contribute to better management and treatment outcome of pediatric acne. While pediatric acne can be frustrating and impact a child’s self-esteem, it is important to emphasize that this is a treatable condition. With the right approach, most cases of pediatric acne can be correctly diagnosed in time and effectively managed, allowing children to have clear and healthy skin without accompanying complications and sequelae such as scarring. It is important to consult a dermatologist timely for an accurate diagnosis and personalized treatment plan. In cases of very severe forms of acne that respond poorly to therapy, and in cases where other signs and symptoms of accompanying systemic disorder or hormonal disorder are present, as well as where there is a suspicion of a rare autoinflammatory syndrome, it is necessary to treat patients multidisciplinary, which includes cooperation with endocrinologists, gynecologists, immunologists, and other pediatric subspecialists

Neurofibromatosis and when it is not the case

Neurokutane bolesti su nasljedni poremećaji razvoja ektoderma. Prema kliničkoj slici i nasljeđivanju dijelimo ih na tri tipa bolesti: neurofibromatoza tipa I, neurofibromatoza tipa II i švanomatoza. Izdvajamo najčešći oblik, neurofibromatozu tipa I (NF1), s posebnim osvrtom na klinička obilježja na koži. Radi se o mutaciji gena NF1 za neurofibromin, a nasljeđivanje je autosomno dominantno i sporadično (50%), uz varijabilnu ekspresivnost. U kliničkoj slici kao jedan od dijagnostičkih kriterija nalaze se café-au-lait makule (CALM), hiperpigmentirane promjene u razini kože, koje mogu biti prisutne po rođenju ili u prvih nekoliko mjeseci. Rastu veličinom i brojem do desete godine života. Za postavljanje dijagnoze NF1 potrebno je šest i više makula većih od 5 mm u promjeru do puberteta, te većih od 15 mm u odrasloj dobi uz ostale kriterije. Do 15% zdrave populacije ima 1 – 3 CALM-a. Osim CALM-a na koži je izražena i aksilarna, odnosno ingvinalna pjegavost, tzv. Crowe sign koja se pojavljuje do sedme godine života u 90% oboljele djece. Isto tako CALM se pojavljuju i kod drugih sindroma u dječjoj dobi kao što su McCune-Albright sindrom, Legius sindrom, Noonan sindrom, tuberozna skleroza i Fanconijeva anemija. Diferencijalno dijagnostički treba uzeti u obzir i same melanocitne lezije i melanotične makule poput Becker nevusa, kongenitalnog nevusa te lentiga. Ostale kliničke manifestacije uključuju pojavu neurofibroma, pleksiformnog neurofibroma, okularne, koštane te neurološke promjene i povećanu učestalost malignih bolesti. Oboljeli često imaju i psihološke probleme. Do 97% bolesnika ispunjava potrebne kriterije za dijagnozu do osme godine života. Kada govorimo o NF1, govorimo o multisistemskoj bolesti čiji se simptomi mogu pojavljivati tijekom cijeloga života, stoga je važno praćenje prilagoditi dobi bolesnika uz multidisciplinaran pristup. CALM mogu biti prisutne i kod zdrave populacije, ali i kod drugih bolesti i sindroma na koje treba pomisliti, stoga je važna suradnja pedijatra i dermatologa od rane životne dobi kod djece sa hiperpigmentacijama.Neurocutaneous diseases are hereditary disorders of ectoderm development. According to the clinical picture and inheritance, we divide them into 3 major types of disease: neurofibromatosis type I, neurofibromatosis type II and schwannomatosis. We highlight the most common form, neurofibromatosis type I (NF1), with special reference to clinical features on the skin. There is a mutation of the NF1 gene for neurofibromin, and the inheritance is autosomal dominant and sporadic (50%), with variable expressivity. In the clinical picture, as one of the diagnostic criteria, there are café-au-lait macules (CALM), hyperpigmented macules on the skin, which can be present at birth or in the first few months. They grow in size and number up to the age of 10. To establish the diagnosis of NF1, 6 or more macules larger than 5 mm in diameter are required until puberty, and larger than 15 mm in adulthood in addition to other criteria. Up to 15% of the healthy population has 1-3 CALM. In addition to CALM, freckling in the axillary or inguinal region also known as Crowe sign appears by the age of 7 in 90% of affected children. CALM also occurs in other childhood syndromes such as McCune-Albright syndrome, Legius syndrome, Noonan syndrome, tuberous sclerosis, and Fanconi anemia. In the differential diagnosis, melanocytic lesions and melanotic macules such as Becker nevus, congenital nevus, and lentigo should be taken into account. Other clinical manifestations include the appearance of neurofibroma, plexiform neurofibroma, ocular, bone, and neurological changes and an increased frequency of malignant diseases. Patients often also have psychological problems. Up to 97% of patients meet the diagnostic criteria by the age of 8. When we talk about NF1, we are talking about a multisystemic disease whose symptoms can appear throughout life, so it is important to adapt monitoring to the age of the patient with a multidisciplinary approach. CALM can be present in a healthy population, but also in other diseases and syndromes that should be considered, therefore the cooperation of pediatricians and dermatologists from an early age in children with hyperpigmentation is very important

The enigma of the HPV-genital infection in the paediatric and adolescent age (brief communication)

Genitalne infekcije uzrokovane humanim papilomavirusom (HPV) sve su više predmetom istraživanja s obzirom na njihovu najvišu učestalost unutar skupine virusnih spolno prenosivih infekcija, sklonost recidivima, dugotrajno liječenje i nedvosmislenu povezanost s pojavom zloćudnih bolesti. Genitalne infekcije uzrokovane HPV-om klinički se najčešće manifestiraju kao širok spektar dermatoveneroloških bolesti, od kojih se posebno ističu condylomata acuminata (šiljasti kondilomi), condylomata plana (ravni kondilomi), gigantski kondilom Buschke-Löwenstein, papulosis Bowenoides, kao i razne druge kliničke manifestacije intraepitelnih neoplazija (IN) vanjskoga genitalnog sustava (dakle, ne samo cervikalne intraepitelne neoplazije, CIN), poput npr. penilne (PIN), analne (AIN), vulvarne (VIN), skrotalne (SIN), vaginalne (VAIN) intraepitelne neoplazije. No, treba svakako napomenuti da se danas s HPV-om povezuju i razne zloćudne bolesti organa izvan genitalnog sustava kao što su npr. grkljan, usna šupljina, ždrijelo itd. Incidencija HPV-genitalnih infekcija najviša je u trećem desetljeću života i opada nakon četrdesete godine života, međutim, sve se više pojavljuju (ili prepoznavaju?) slučajevi HPV-genitalne infekcije u dječjoj dobi, kao i u meno/andropuazi. U tom smislu posebnu pozornost treba pridati HPV-infekcijama u dječjoj dobi s obzirom na složenost odnosa dijete – roditelj – zdravstveni radnik u toj situaciji, zahtjevnost liječenja, kao i mogućnost seksualnog zlostavljanja djeteta. Liječnik koji se „hvata u koštac“ s ovom problematikom treba kritički i razumno, no istodobno i umirujuće pristupiti bolesniku i roditeIju i što egzaktnije potvrditi dijagnozu. S obzirom na sve navedeno, kao i na dostupnost cjepiva protiv HPV-infekcija, danas je cijepljenje oba spola deveterovalentnom (9v) HPV-vakcinom ozbiljan pomak koji značajno unaprjeđuje pristup ovom problemu.Anogenital infections caused by Human papillomavirus (HPV) are the most frequently diagnosed Sexually Transmitted Infections (STIs) of viral origin. Anogenital warts (condylomata acuminata) are the most common lesions presented in men, however, during the last decade the other HPV-associated exaggerated lesions such as condylomata plana, penile, scrotal, and anal intraepithelial neoplasias (thus not only cervical), as well as the penile, urine bladder and prostate cancer have been studied a little bit more extensively. The clinical variations might range from clinically invisible, asymptomatic lesions to the bizarre forms of giant condyloma of Buschke-Löwenstein type, including Bowenoid papulosis, Mb. Bowen, different kinds of eryhtroplasias in both men and women and a large spectrum of HPV-induced dermatovenereological entities in genital region including the HPV-associated premalignant and malignant lesions of larynx, oropharynx, mouth cavity etc. In spite of the fact that the clinical manifestations of HPV-genital infections are most frequently observed in the third decade of life, more and more cases have been reported (or registered?) in the paediatric and meno/andropausal age. The complexity of the HPV-genital infections in the paediatric age definitely deserve our special attention providing the specific “child-parent-health provider” relationship in such delicate situation, demanding treatment modalities in paediatric age and the possibility that such clinical lesions might be consequence of the child sexual abuse. A critical, reasonable and reassuring attitude of the health provider is definitely mandatory in these particular situations. Accordingly, we definitely need the HPV vaccination programme to get rid of one of the oldest and up to now unsolved problems of humankind. Approaches to this include prophylactic vaccines such as nonavalent (9v) HPV vaccine for both men and women

Guidelines for treatment of atopic dermatitis

Atopijski dermatitis česta je, kronično recidivirajuća upalna bolest kože karakterizirana složenom etiopatogenezom i raznolikim kliničkim fenotipom. Klinička slika može biti različita, a bolest je obilježena ponavljajućim dermatitisom, izraženim svrbežom i značajnim utjecajem na kvalitetu života oboljele osobe i cijele obitelji. Dijagnoza se postavlja na temelju kliničke slike prema standardiziranim dijagnostičkim kriterijima, a procjena težine bolesti prema standardiziranim instrumentima za procjenu težine bolesti. Liječenje treba prilagoditi svakom bolesniku, a cilj liječenja je smanjiti simptome svrbeža, obnoviti oštećenu kožnu barijeru, spriječiti egzacerbaciju bolesti, spriječiti odnosno liječiti komplikacije i komorbiditete te smanjiti negativni utjecaj bolesti na kvalitetu života. Zahvaljujući napretku u razumijevanju etiopatogeneze, terapijske mogućnosti su zadnjih godina značajno napredovale. Hrvatsko dermatovenerološko društvo Hrvatskoga liječničkog zbora predstavlja smjernice za dijagnostiku i liječenje atopijskog dermatitisa. Smjernice su rezultat konsenzusa hrvatskih stručnjaka za atopijski dermatitis koji su kritički proučili mjerodavnu znanstvenu literaturu, koja se temelji na najboljim dokazima.Atopic dermatitis is a common, chronically recurrent inflammatory skin disease characterized by a complex etiopathogenesis and a variable clinical phenotype. The clinical presentation is heterogeneous, and the disease is characterized by a recurrent dermatitis, intense itching and a significant impact on the quality of life of patients and their family. The diagnosis is based on the clinical presentation according to the standardized diagnostic criteria, while the assessment of disease severity of the disease is based on the standardized tools for disease severity assessment. Treatment should be tailored to each patient profile, and the goal of the treatment is focused on decreasing symptoms and renewing damaged skin barrier, preventing the exacerbation of the disease and preventing or treating the complications and comorbidities, and decreasing the negative influence of the disease on the patient’s quality of life. Due to progress in understanding the etiopathogenesis, treatment options have significantly expanded in the past years. The Croatian Society of Dermatovenerology of the Croatian Medical Association is presenting guidelines for diagnosis and treatment of atopic dermatitis. These guidelines are the result of consensus of Croatian experts based on critical analysis of relevant, evidence-based scientific literature

Guidelines for treatment of atopic dermatitis

Atopijski dermatitis česta je, kronično recidivirajuća upalna bolest kože karakterizirana složenom etiopatogenezom i raznolikim kliničkim fenotipom. Klinička slika može biti različita, a bolest je obilježena ponavljajućim dermatitisom, izraženim svrbežom i značajnim utjecajem na kvalitetu života oboljele osobe i cijele obitelji. Dijagnoza se postavlja na temelju kliničke slike prema standardiziranim dijagnostičkim kriterijima, a procjena težine bolesti prema standardiziranim instrumentima za procjenu težine bolesti. Liječenje treba prilagoditi svakom bolesniku, a cilj liječenja je smanjiti simptome svrbeža, obnoviti oštećenu kožnu barijeru, spriječiti egzacerbaciju bolesti, spriječiti odnosno liječiti komplikacije i komorbiditete te smanjiti negativni utjecaj bolesti na kvalitetu života. Zahvaljujući napretku u razumijevanju etiopatogeneze, terapijske mogućnosti su zadnjih godina značajno napredovale. Hrvatsko dermatovenerološko društvo Hrvatskoga liječničkog zbora predstavlja smjernice za dijagnostiku i liječenje atopijskog dermatitisa. Smjernice su rezultat konsenzusa hrvatskih stručnjaka za atopijski dermatitis koji su kritički proučili mjerodavnu znanstvenu literaturu, koja se temelji na najboljim dokazima.Atopic dermatitis is a common, chronically recurrent inflammatory skin disease characterized by a complex etiopathogenesis and a variable clinical phenotype. The clinical presentation is heterogeneous, and the disease is characterized by a recurrent dermatitis, intense itching and a significant impact on the quality of life of patients and their family. The diagnosis is based on the clinical presentation according to the standardized diagnostic criteria, while the assessment of disease severity of the disease is based on the standardized tools for disease severity assessment. Treatment should be tailored to each patient profile, and the goal of the treatment is focused on decreasing symptoms and renewing damaged skin barrier, preventing the exacerbation of the disease and preventing or treating the complications and comorbidities, and decreasing the negative influence of the disease on the patient’s quality of life. Due to progress in understanding the etiopathogenesis, treatment options have significantly expanded in the past years. The Croatian Society of Dermatovenerology of the Croatian Medical Association is presenting guidelines for diagnosis and treatment of atopic dermatitis. These guidelines are the result of consensus of Croatian experts based on critical analysis of relevant, evidence-based scientific literature