UMMS Affiliation

Department of Pediatrics, Division of Pulmonology

Date

4-8-2015

Document Type

Article

Disciplines

Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Pediatrics | Pulmonology | Respiratory Tract Diseases

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.

Rights and Permissions

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

Related Resources

Link to Article in PubMed

Keywords

Hereditary mucoepithelial dysplasia, Respiratory distress

PubMed ID

26236594

Creative Commons License

Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.

 
 

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