title: Hereditary mucoepithelial dysplasia and severe respiratory distress.
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.
authors.affiliation: Division of Pulmonary Medicine, Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL 32610, USA.
authors.forename: Mahmoud
authors.initials: M
authors.lastname: Halawa
authors.affiliation: Division of Pulmonary Medicine, Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL 32610, USA.
authors.forename: Mutasim N
authors.initials: MN
authors.lastname: Abu-Hasan
authors.affiliation: Division of Pulmonary Medicine and Gene Therapy Center, Department of Pediatrics, College of Medicine, University of Massachusetts Medical School, Worcester, MA 01655, USA.
authors.forename: Mai K
authors.initials: MK
authors.lastname: ElMallah
keywords: Hereditary mucoepithelial dysplasia; Respiratory distress