1. Neurofibromatoza i kada to nije slučaj
- Author
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Martinac Ciglar, Ivana, Skerlev, Mihael, Husar, Karmela, Balić, Anamaria, Murat-Sušić, Slobodna, Martinac Ciglar, Ivana, Skerlev, Mihael, Husar, Karmela, Balić, Anamaria, and Murat-Sušić, Slobodna
- Abstract
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, 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
- Published
- 2024