General
Cowden syndrome (multiple hamartoma syndrome) is classified as a hereditary disorder. The cause of this syndrome is a mutation of the tumor suppressor (anti‑oncogenic) PTEN gene. These genes are responsible for regulating cell division. Cowden syndrome is often associated with breast cancer or thyroid cancer.
Diagnosis
Diagnosis of this disorder is based on the symptoms listed below as well as on genetic testing, in which a mutation of the tumor suppressor PTEN gene is detected. The occurrence of the disorder within the family is also important.
Treatment
Treatment of this disorder is purely symptomatic, meaning that efforts are focused on alleviating the symptoms of the syndrome.
- prítomnosť hamartomatózních lézií - hamartóm - útvar podobný nádoru vzniknutý z tkanivového odštepu
- trichilemálna cysta v tvári (bežne nezhubná podkožná cysta)
- makrocefalia (veľká hlava)
- zvýšené riziko vzniku nádorov prsníka či štítnej žľazy
- polypy v tráviacom trakte
- nedovyvinutá horná a dolná čeľusť
- nadpočetné rebrá
- deformity hrudníka
- lipómy (nezhubné tukové nádory) v podkoží
- porucha vývoja mozgu až mentálna retardácia
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