| Title |
Fakomatozės: nuo odos požymių iki neurologinės diagnozės |
| Translation of Title |
Phacomatoses: from cutaneous signs to neurological diagnosis. |
| Authors |
Sučylaitė, Karolina ; Jokubaitis, Mantas |
| DOI |
10.15388/NS.2025.29.103.5 |
| Full Text |
|
| Is Part of |
Neurologijos seminarai.. Vilnius : Vilniaus universiteto leidykla. 2025, vol. 29, no. 1(103), p. 53-65.. ISSN 1392-3064. eISSN 2424-5917 |
| Keywords [eng] |
phacomatoses ; neurocutaneous syndromes ; diagnostics ; treatment |
| Abstract [eng] |
Phacomatoses are a group of genetically determined multisystemic conditions that mainly af- fect the skin, eyes and central nervous system. Many phacomatoses present with specific skin manifesta- tions, whose accurate evaluation can significantly contribute to establishing the correct diagnosis. The aim of this article is to review the most common phacomatoses: neurofibromatosis type 1, tuberous sclerosis complex, Sturge-Weber syndrome, and ataxia–telangiectasia. We discuss their epidemiology, etiology, the latest diagnostic criteria and clinical features with particular emphasis on dermatological manifestations. |
| Published |
Vilnius : Vilniaus universiteto leidykla |
| Type |
Journal article |
| Language |
Lithuanian |
| Publication date |
2025 |
| CC license |
|
