Department of Pediatrics, Division of Pulmonology
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Pediatrics | Pulmonology | Respiratory Tract Diseases
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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Citation: Respir Med Case Rep. 2015 Apr 8;15:27-9. doi: 10.1016/j.rmcr.2015.03.004. eCollection 2015. Link to article on publisher's site
Hereditary mucoepithelial dysplasia, Respiratory distress
Halawa, Mahmoud; Abu-Hasan, Mutasim N.; and Elmallah, Mai K., "Hereditary mucoepithelial dysplasia and severe respiratory distress" (2015). Pediatric Publications and Presentations. 58.
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