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Pregled bibliografske jedinice broj: 1105503

Encephalocraniocutaneous Lipomatosis without ocular malformations

Radić Nišević, Jelena; Prpić, Igor; Antulov, Ronald; Sasso, Antun; Holjar Erlić, Izidora
Encephalocraniocutaneous Lipomatosis without ocular malformations // Pediatric neurology, 60 (2016), 71-74 doi:10.1016/j.pediatrneurol.2016.03.005 (međunarodna recenzija, prikaz, znanstveni)

CROSBI ID: 1105503 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Encephalocraniocutaneous Lipomatosis without ocular malformations
(Encephalocraniocutaneous Lipomatosis without ocular malformations)

Autori
Radić Nišević, Jelena ; Prpić, Igor ; Antulov, Ronald ; Sasso, Antun ; Holjar Erlić, Izidora

Izvornik
Pediatric neurology (0887-8994) 60 (2016); 71-74

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, prikaz, znanstveni

Ključne riječi
diagnostic criteria ; differential diagnosis ; encephalocraniocutaneous lipomatosis ; neurocutaneous syndrome

Sažetak
Encephalocraniocutaneous lipomatosis is a rare congenital neurocutaneous syndrome resulting from ectomesodermal dysgenesis and characterized by unique hairless scalp lesions in the form of nevus psiloliparus, ipsilateral ocular malformations, and central nervous system anomalies. According to the 2009 diagnostic criteria proposed by Moog et al., ocular abnormalities are supposed to be the most consistent feature of encephalocraniocutaneous lipomatosis. Patient description: We describe an 18-year-old girl with most of the central nervous system manifestations of encephalocraniocutaneous lipomatosis, major skin alterations including nevus psiloliparus, but no ocular involvement. Conclusion: Our patient suggests more variability in clinical features and a more complex genetic/embryonic etiology of encephalocraniocutaneous lipomatosis.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Rijeka,
Klinički bolnički centar Rijeka

Profili:

Avatar Url Antun Sasso (autor)

Avatar Url Igor Prpić (autor)

Avatar Url Jelena Radić Nišević (autor)

Avatar Url Ronald Antulov (autor)

Poveznice na cjeloviti tekst rada:

doi www.pedneur.com

Citiraj ovu publikaciju:

Radić Nišević, Jelena; Prpić, Igor; Antulov, Ronald; Sasso, Antun; Holjar Erlić, Izidora
Encephalocraniocutaneous Lipomatosis without ocular malformations // Pediatric neurology, 60 (2016), 71-74 doi:10.1016/j.pediatrneurol.2016.03.005 (međunarodna recenzija, prikaz, znanstveni)
Radić Nišević, J., Prpić, I., Antulov, R., Sasso, A. & Holjar Erlić, I. (2016) Encephalocraniocutaneous Lipomatosis without ocular malformations. Pediatric neurology, 60, 71-74 doi:10.1016/j.pediatrneurol.2016.03.005.
@article{article, author = {Radi\'{c} Ni\v{s}evi\'{c}, Jelena and Prpi\'{c}, Igor and Antulov, Ronald and Sasso, Antun and Holjar Erli\'{c}, Izidora}, year = {2016}, pages = {71-74}, DOI = {10.1016/j.pediatrneurol.2016.03.005}, keywords = {diagnostic criteria, differential diagnosis, encephalocraniocutaneous lipomatosis, neurocutaneous syndrome}, journal = {Pediatric neurology}, doi = {10.1016/j.pediatrneurol.2016.03.005}, volume = {60}, issn = {0887-8994}, title = {Encephalocraniocutaneous Lipomatosis without ocular malformations}, keyword = {diagnostic criteria, differential diagnosis, encephalocraniocutaneous lipomatosis, neurocutaneous syndrome} }
@article{article, author = {Radi\'{c} Ni\v{s}evi\'{c}, Jelena and Prpi\'{c}, Igor and Antulov, Ronald and Sasso, Antun and Holjar Erli\'{c}, Izidora}, year = {2016}, pages = {71-74}, DOI = {10.1016/j.pediatrneurol.2016.03.005}, keywords = {diagnostic criteria, differential diagnosis, encephalocraniocutaneous lipomatosis, neurocutaneous syndrome}, journal = {Pediatric neurology}, doi = {10.1016/j.pediatrneurol.2016.03.005}, volume = {60}, issn = {0887-8994}, title = {Encephalocraniocutaneous Lipomatosis without ocular malformations}, keyword = {diagnostic criteria, differential diagnosis, encephalocraniocutaneous lipomatosis, neurocutaneous syndrome} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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