Lois J. Starr, Mark E. Lindsay, Deborah Perry, Gregory Gheewalla, Paul A. VanderLaan, Adnan Majid, Charlie Strange, George-Claudiu Costea, Adrian Lungu, Angela E. Lin
University of Nebraska Medical Center. Harvard Medical School and MassGeneral Hospital for Children. Massachusetts General Hospital. Methodist Hospital. Tufts University School of Medicine. Beth Israel Deaconess Medical Center. Medical University of South Carolina. Fundeni Clinical Institute.
United States and Romania
Pediatric and Developmental Pathology
Pediatr Dev Pathol 2022; 25: 611-623
DOI: 10.1177/10935266221079569
Abstract
Background: Myhre syndrome, caused by pathogenic variants in SMAD4, is characterized by compact body habitus with short stature, distinctive craniofacial appearance, stiff skin, cardiovascular abnormalities (valve stenosis, coarctation, hypoplasia, or stenosis of aorta), effusions of potential spaces (pericardium, pleura, peritoneum), restricted movement of the joints (including thorax), and hearing loss. Lung and airway disease has been reported, but not always well-defined, to include interstitial lung disease, large airway obstruction, and pulmonary arterial hypertension. Excessive fibroproliferation of tissues especially following trauma or surgical instrumentation has been recognized, although these may also present spontaneously.
Method: We report the pathologic features of 1 new patient with progressive choanal stenosis, and 22 literature cases, including the expanded history of 5 patients (3 who died).
Results: Examination of patient tissues documents cellular fibroproliferation and deposition of excessive extracellular matrix explaining some of the observed clinical features of Myhre syndrome.
Conclusion: Excessive fibrosis is noted in multiple tissues, especially heart, lung, and upper and lower airways. Our research provides the first systematic review to provide a knowledge base of gross and pathologic findings in Myhre syndrome.
Category
Review Articles Concerning Pulmonary Vascular Disease
Class III. Pulmonary Hypertension Associated with Lung Disease
Pulmonary Vascular Pathology
Genetic Factors Associated with Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Filed (PHiled). Greater than 1-2 years since publication
Article Access
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