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Updated: Apr 6, 2026

In vivo Evaluation of Mucociliary Clearance in Mice
Published on: December 18, 2020
Hereditary mucoepithelial dysplasia and severe respiratory distress
Mahmoud Halawa1, Mutasim N Abu-Hasan1, Mai K ElMallah2
1Division of Pulmonary Medicine, Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL 32610, USA.
Abstract:
Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant disorder characterized by mucoepithelial disruption of the skin, hair and mucous membranes. It results from defective gap junction formation and leads to non-scarring alopecia, mucosal erythema, perineal erythematous intertrigo, involvement of the conjunctival mucosa, and pulmonary disease. We present a case of severe respiratory distress in an initially healthy full term infant born to a mother with HMD. This infant later developed signs and symptoms of HMD. A high index of suspicion for pulmonary infection with atypical organism is essential in infants with a family history of HMD who present with respiratory distress.
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