Submucosal Supernumerary Smooth Muscle Coat: A Common Histologic Finding in Mowat-Wilson Syndrome With or Without Hirschsprung Disease.
Publication Title
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Document Type
Article
Publication Date
5-29-2020
Abstract
BACKGROUND: Mowat-Wilson syndrome (MWS) is a multiorgan system disorder caused by
METHOD: Rectal biopsies and rectosigmoidectomy specimens from MWS patients were identified by retrospective reviews of surgical pathology records. Routinely prepared glass slides were examined to determine whether any smooth muscle structural alteration was present. Clinical information was obtained by chart review.
RESULTS: Six MWS patients were identified. A supernumerary smooth muscle coat in the submucosa was present in 3 of them, including 2 of the 4 patients with HSCR.
CONCLUSION: The structural anomaly, termed submucosal supernumerary smooth muscle coat, is not a syndrome-specific pathological feature. However, it appears to be more common than expected in MWS and is consistent with contemporary models for the roles of ZEB2 and related cell signaling pathways in the patterning of intestinal musculature during embryonic development.
Keywords: Hirschsprung disease; Mowat–Wilson syndrome; ZEB2; pseudo-obstruction; smooth muscle; supernumerary muscle.
Specialty/Research Institute
Pathology & Laboratory Medicine
Specialty/Research Institute
Surgery
Specialty/Research Institute
Pediatrics
