Zhou Ting, Patel Kalyani, Harris R Alan, Seghers Victor, Walsh Seema M, Rodriguez Ruben, Kellermayer Richard, Wu Hao
Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA.
Department of Pathology & Laboratory Medicine, Texas Children's Hospital, Houston, TX, USA.
Ann Clin Lab Sci. 2021 Nov;51(6):868-874.
Mucosal prolapse syndrome most commonly involves the rectum and presents as solitary rectal ulcer syndrome and proctitis cystica profunda. Symptoms and endoscopic appearances are nonspecific. Histologically, mucosal prolapse is characterized by fibromuscular obliteration of the lamina propria, and displacement of crypts into submucosa and muscularis mucosae. Mucosal prolapse presenting as polyposis is rare and has only been reported involving the rectosigmoid colon. In this report, we describe a case of mucosal prolapse syndrome presenting as diffuse polyposis and colitis cystica profunda involving the hepatic, splenic flexures and descending colon in a teenage boy suffering from refractory fibrostenosing Crohn's disease. This patient was found to have possibly deleterious homozygous single nucleotide polymorphisms in both and genes within a unique polygenic variation of altered cell adhesion.