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SYNDROMA COWDEN – CASE REPORT (CROSBI ID 568356)

Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | međunarodna recenzija

Cindrić, Igor ; Šerić, Vesna ; Demarin, Vida SYNDROMA COWDEN – CASE REPORT // Acta Clinica Croatica. 2010. str. 103-103

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

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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

Povezanost rada

Kliničke medicinske znanosti