Lhermitte-Duclos Disease in association with Cowden Syndrome.
Cowden syndrome (CS) is a rare genetic disorder with autosomal dominant inheritance, linked to germline mutations in the PTEN tumor suppressor gene on chromosome 10. Cowden syndrome often co-exists with Lhermitte-Duclos disease (LDD), with LDD included as a major criterion in CD diagnosis. This case involves a woman presenting with many of the classic diagnostic criterions and associations of CD, as well as with several comorbidities and unique objective findings.
University of Kansas School of Medicine. cnielson@kumc.edu.
Colton
C
Nielson
Toria
T
Fischer
Ryan
R
Fischer
Joseph
J
Donald
Anand
A
Rajpara
D001943:Breast Neoplasms / Q000150:complications; D002528:Cerebellar Neoplasms / Q000150:complications / Q000000981:diagnostic imaging*; D005260:Female; D005729:Ganglioneuroma / Q000150:complications / Q000000981:diagnostic imaging*; D006223:Hamartoma Syndrome, Multiple / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000150:complications / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D051059:PTEN Phosphohydrolase / Q000235:genetics; D012878:Skin Neoplasms / Q000150:complications / Q000175:diagnosis*
D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human