A Case of Peutz-Jeghers Syndrome in Association with Sarcoidosis

Abstract

Purpose: Case Report: Our case involves a 60 year old European gentleman with a past medical history of steroid-dependent sarcoid, HTN, colon cancer and Peutz-Jeghers syndrome (PJS) who is routinely seen in our outpatient office. A routine colonoscopy for CRC screening at the age of 50 found a colonic malignancy which necessitated a sigmoid colectomy. A recurrence of his disease two years later resulted in a left hemicolectomy. At the age of 56, after a negative EGD and colonoscopy, the patient was sent to our institution for further evaluation of microcytic anemia with guaic positive stools. A capsule endoscopy revealed multiple large polyps extending from the 2nd portion of the duodenum to the distal jejunum. The patient then underwent his first DBE with antegrade approach and removal of 15 polyps. However, not all the polyps could be safely removed. The patient subsequently underwent laparoscopic resection of his small bowel. Though the patient did not have the expected findings of a history of intussusceptions, SBO or abdominal pain, close inspection of his oral cavity revealed melanin deposition on his oral mucosa and a faint mucocutaneous pigmentation. With the aforementioned clinical presentation and pathological findings, the patient was given a diagnosis of PJS. In regards to his sarcoid, the patient was diagnosed at the age of 30 when he presented to his PCP with enlarging plaques. Fifteen years later, he developed SOB and pulmonary sarcoidosis was confirmed. We have continued to be involved in his care for management and surveillance of his PJS and see him twice yearly. Discussion: The prevalence of PJS is estimated to be between 1/60,000-1/300,000. Similarly rare, the overall prevalence of sarcoidosis in Caucasian patients in the United States has been noted to be less than 10/100,000 patients. As such, the possibility of both rare diseases independently occurring in a single patient would be exceedingly unlikely. For this reason, we postulate the presence of a common genetic or biochemical pathway. PJS most commonly manifests as multiple gastrointestinal hamartomatous polyps and hyperpigmented mucosal lesions with a predisposition to developing malignancy. The underlying cause of PJS is a germ line mutation in a gene encoding the serine threonine kinase tumor suppressor STK11/LKB1 on band 19p13.3. Though the genetics of sarcoid continue to be a mystery, an association with the HLA-DR allele on band 6p21.31 has been identified in certain populations. We postulate a possible connection between these two rare genetic entities and note that further genetic and population studies may be warranted.