A Rijedak slučaj s anomalijama ekstremiteta: Rothmund-Thomsonov sindrom
Rothmund-Thomsonov sindrom
Sažetak
Uvod: Rothmund-Thomsonov sindrom (RTS) ili Poikiloderma Congenitale je rijetka autosomno recesivna genodermatoza sa zahvaćenošću mnogih sustava. Rizik od mezenhimalne malignosti je visok u ovoj bolesti koja je popraćena kožnim nalazima kao što su atrofija kože, hipohiperpigmentacija, nizak rast, zastoj u rastu, hipogonadizam, displazija noktiju i zuba, abnormalnosti udova i simptomi gastrointestinalnog sustava kao što su kronični proljev i povraćanje.
Prikaz slučaja: Sindromski bolesnik s aplazijom palca u bilateralnim prstima, hipopigmentiranim i hiperpigmentiranim makularnim lezijama na koži, hipogonadizmom konzultiran je na Pedijatrijsku genetiku i dijagnosticiran kao RTS.
Zaključak: Kod ove rijetke bolesti potrebna je rana dijagnoza, svijest o mogućim zloćudnim bolestima i multidisciplinarni plan pristupa liječenju.
Reference
2. Roinioti TD, Stefanopoulos PK. Short root anomaly associated with Rothmund-Thomson syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007;103(1):e19-22.
3. Hafsi W, Badri T. Poikiloderma Congenitale. StatPearls. Treasure Island (FL) ineligible companies. Disclosure: Talel Badri declares no relevant financial relationships with ineligible companies.2024.
4. Kim H, Choi H, Im JS et al. Stable maintenance of the Mre11-Rad50-Nbs1 complex is sufficient to restore the DNA double-strand break response in cells lacking RecQL4 helicase activity. J Biol Chem. 2021;297(4).
5. Martins DJ, Di Lazzaro Filho R, Bertola DR et al. Rothmund-Thomson syndrome, a disorder far from solved. Front Aging. 2023;4.
6. Pujol LA, Erickson RP, Heidenreich RA et al. Variable presentation of Rothmund-Thomson syndrome. Am J Med Genet. 2000;95(3):204-7.
7. Larizza L, Roversi G, Verloes A. Clinical utility gene card for: Rothmund-Thomson syndrome. Eur J Hum Genet. 2013;21(7).
8. Wang LL, Levy ML, Lewis RA et al. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet. 2001;102(1):11-7.
9. Zhang Y, Qin W, Wang H et al. Novel pathogenic variants in the RECQL4 gene causing Rothmund-Thomson syndrome in three Chinese patients. J Dermatol. 2021;48(10):1511-7.
10. Zeng J, Li J, Liu Y et al. A Chinese patient with Rothmund-Thomson syndrome. Mol Genet Genomic Med. 2024;12(1):e2347.