English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Neurofibromatosis type I (NF1) is an autosomal dominant, multisystemic disease that usually affects the skin, nervous system and bones. Diagnosis is made by matching at least two of the following 7 diagnostic criteria: six or more caféau- lait macules over 15 mm in diameter, two or more neurofibromas, axillary and/or inguinal freckles, optic glioma, two or more Lisch’s nodules (iris hamartoma), changes in the bones in the form of sphenoid dysplasia, thinning of the cortex of long bones and existence of neurofibromatosis in the first degree relatives. We report three patients, two men and a woman aged 18 to 33 years, in whom the first changes occurred at puberty, and there was no positive family history in any of them. All three patients had café-au-lait spots over 15 mm in diameter and numerous localized neurofibromas on the skin of the trunk and extremities that were histologically verified. In two patients, ophthalmic examinations recorded Lisch’s nodules in the iris. In one of the patients, MRI of the head, revealed presence of oval lesions with diameters of 10-15 mm, which may correspond to neurofibromas, and in the other patient fibrous dysplasia of the femur and tibia were observed. Psychological testing in one patient revealed IQ at the lower limits of average (IQ 68). After the diagnosis of neurofibromatosis type I, the patients were given advice about the disease and a plan for the monitoring and control of possible symptoms, and also the possibility of genetic testing during pregnancy. A multidisciplinary approach is required for diagnosing and monitoring of patients with neurofibromatosis type 1. Sažetak Uvod: Neurofibromatoza tip I (NF1) je autozomno dominantno, nasledno neurogeno, multisistemsko oboljenje koje najčešće zahvata kožu, nervni sistem i kosti. Dijagnoza ovog oboljenja se postavlja ukoliko su ispunjena najmanje dva od sledećih 7 dijagnostičkih kriterijuma: šest ili više café au lait makula promera preko 15 mm, dva ili više neurofibroma, aksilarne i/ili ingvinalne makule, optički gliom, dva ili više Lisch-ovih nodula (hamartromi dužice), promene na kostima u vidu sfenoidne displazije, istanjenje korteksa dugih kostiju sa ili bez pseudoartroze i postojanje neurofibromatoze kod rođaka prvog stepena. Prikaz bolesnika: Prikazujemo tri bolesnika, dva muškarca i ženu starosti od 18 do 33 godine kod kojih je, nakon učinjenog kliničkog ispitivanja postavljena dijagnoza neurofibromatoze tipa I. Kod sva tri bolesnika prve promene u vidu svetlosmeđih mrlja i sitnih mekih čvorića na koži javili su se u dobu puberteta. Sva tri pacijenta imala su café-au-lait makule promera preko 15 mm i brojne neurofibrome lokalizovane na koži trupa i ekstremiteta koji su patohistološki verifikovani. Kod dva pacijenta oftalmološkim pregledom evidentirani su Lischovi noduli na dužici, dok je kod jednog pacijenta pregled pomoću nuklearne magnetne rezonancije glave ukazao na endokranijalno prisustvo ovalnih lezija dijametara od 10-15 mm koji mogu odgovarati neurofibromima, a rendrengrafijom na oba femura i obe tibije uočena fibrozna displazija. Lečenje: Terapija neurofibromatoze tipa I je simptomatska i predominantno hirurška uz adekvatno praćenje i multidisciplinarni pristup bolesniku i odgovarajuće genetsko savetovanje.

serbian journal of dermatology and venereology/serbian journal of dermatology and venerology

Neurofibromatosis type I (von Recklinghausen’s disease): A Report of Three Cases / Neurofibromatoza tip I (von Recklinghausenova bolest): prikaz tri slučaja