SYNDROMA COWDEN – CASE REPORT (CROSBI ID 568356)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Cindrić, Igor ; Šerić, Vesna ; Demarin, Vida
engleski
SYNDROMA COWDEN – CASE REPORT
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.
Syndroma Cowden; autosomal dominant disease; hamartoma
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o prilogu
103-103.
2010.
objavljeno
Podaci o matičnoj publikaciji
Acta Clinica Croatica
Podaci o skupu
The 50th International Neuropsychiatric Pula Congress
poster
16.06.2010-19.06.2010
Pula, Hrvatska