Naslov
SYNDROMA COWDEN – CASE REPORT

Autori
Cindrić, Igor ; Šerić, Vesna ; Demarin, Vida

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
Acta Clinica Croatica / - , 2010, 103-103

Skup
The 50th International Neuropsychiatric Pula Congress

Mjesto i datum
Pula, Hrvatska, 16.06.2010. - 19.06.2010

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Syndroma Cowden; autosomal dominant disease; hamartoma

Sažetak
Syndroma Cowden is rare autosomal dominant condition characterized with multiple hamartoma neoplasms of the skin, mucosa, bones, central nerve system, genitourinary tract, gastrointestinal tract and thyroid gland as well as skeletal abnormalities. Clinical features of this entitety are explaned by mutation of the PTEN tumor supresor gene. Patognomonic sign of this syndrom is Lhermitte Duclos tumor that represents dysplastic gangliocytoma of cerebellum. Th e importance of this disease lies in increased risk to malignization of some lesions. We present a 57 year old female with history of diferent thyroid gland abnormalyties including follicular tumor, adenoacanthoma of uterus, Lhermitte Duclos tumor, kyphoscolios and small jaw. Th ese clinical features suggest presentation of Cowden’s syndrom in our patient which is rare clinical entity with approximately 200 published cases.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA