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Cowden syndrome
Indian J Gastroenterol (November-December
Cowden syndrome
Sridivya Parvataneni 0 1 2
Dhara Chaudhari 0 1 2
James Swenson 0 1 2
Mark Young 0 1 2
0 Dhara Chaudhari
1 Department of Gastroenterology, Quillen College of Medicine, East Tennessee State University , 178 Maple Ave, Mountain Home, TN 37684 , USA
2 Department of Internal Medicine, Quillen College of Medicine, East Tennessee State University , 178 Maple Ave, Mountain Home, TN 37684 , USA
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Cowden syndrome (CS), first described in 1963, is an
autosomal dominant disorder associated with mutations in the
phosphatase and tensin homolog (PTEN) gene, incomplete
penetrance, and variable expressivity. Gastrointestinal
manifestations include intestinal ganglioneuromas and esophageal
acanthosis [
1
]. The clinical criteria proposed by the
International Cowden Consortium are used to diagnose the
syndrome. The Cleveland Clinic has suggested a PTEN score
calculator based on clinical manifestations to select patients
for PTEN mutation testing [
2
]. Due to CS association with
malignant diseases, early diagnosis and periodic follow up
examination in patient and their family members is necessary.
The images are from a 38-year-old male investigated for
intermittent hematochezia. Past history was significant for
lipoma, dysplastic nevi, and family history for colon cancer in
father and breast cancer and benign thyroid nodules in sister.
This patient had macrocephaly, with multiple polyps at
colonoscopy which were all ganglioneuroma on biopsy (Fig. 1).
Upper gastrointestinal endoscopy revealed diffuse esophageal
glycogenic acanthosis (Fig. 2) and gastric hyperplastic polyp,
and the patient was referred to genetic counseling and was
positive for PTEN mutation.
Fig. 1 Colonic polyps showing multiple nests predominantly in the
lamina propria that contain neural tissue and ganglion cells suggestive
of ganglioneuromas
*
1. Coriat R , Mozer M , Caux F , et al. Endoscopic findings in Cowden syndrome . Endoscopy . 2011 ; 43 : 723 - 6 .
2. Tan MH , Mester J , Peterson C , et al. A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands . Am J Hum Genet . 2011 ; 88 : 42 - 56 . (...truncated)