Wynik wyszukiwania w bazie Polska Bibliografia Lekarska GBL

Liczba odnalezionych rekordów: 1

Przejście do opcji zmiany formatu | Wyświetlenie wyników w wersji do druku


Tytuł oryginału: Ehlers-Danlos syndrome - report of two cases.
Autorzy: Woszczyk Dariusz, Widuchowska Małgorzata, Najda Jacek, Kucharz Eugeniusz J.
Źródło: Case Rep. Clin. Pract. Rev. 2002: 3 (4) s.281-285, il., tab., bibliogr. 17 poz.
Sygnatura GBL: 313,612

Typ dokumentu:
  • praca kazuistyczna
  • tytuł obcojęzyczny

    Wskaźnik treści:
  • ludzie
  • dorośli 19-44 r.ż.
  • płeć żeńska

    Streszczenie angielskie: Background: Ehlers-Danlos syndrome comprises a group of hereditary disorders of connective tissue characterized by joints hypermobility, skin abnormalities, dysfunctions of cardiac valves, varicose veins and osteoarthritis. The most common is the severe form of the disease with joint hypermobility and characteristically velvety, hyperextensible skin. Other type presents with a striking thinness of the skin and a predisposition to sudden death from rupture of large blood vessels or the large bowel. The underlying cause of connective tissue impairment leading to this syndrome is a group of mutations affecting the genes responible for collagen polypeptide chains coding and subsequent synthesis. The diagnosis of the disease is established mostly on the basis of clinical symptomatology. The current classification comprises 11 types of the disease. Case report: Two cases, representing types III and IV of the disease are presented and thoroughly analized, emphasizing clinical, diagnostic difficulties associated with them. In the case of the first of our patients, the diagnosis of type IV Ehlers-Danlos syndrome was based on the observation of translucent skin, cigarette paper-like scars with absence of significant joints hypermobility. The example of life-threatening vascular complications in this type is death of the patient's father because of abdominal aorta rupture. In the second case, the diagnosis of type III of the disease was established on the basis of evident joints hypermobility and their luxations, postoperative 'cigarette paper'-like scars and hernias, with rapidly appearing signs of cripplehood...

    stosując format: