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Halawa M, Abu-Hasan MN, ElMallah MK. Hereditary mucoepithelial dysplasia and severe respiratory distress. Respir Med Case Rep. 2015;15:27-9doi: 10.1016/j.rmcr.2015.03.004.
Halawa, M., Abu-Hasan, M. N., & ElMallah, M. K. (2015). Hereditary mucoepithelial dysplasia and severe respiratory distress. Respiratory medicine case reports, 1527-9. https://doi.org/10.1016/j.rmcr.2015.03.004
Halawa, Mahmoud, et al. "Hereditary mucoepithelial dysplasia and severe respiratory distress." Respiratory medicine case reports vol. 15 (2015): 27-9. doi: https://doi.org/10.1016/j.rmcr.2015.03.004
Halawa M, Abu-Hasan MN, ElMallah MK. Hereditary mucoepithelial dysplasia and severe respiratory distress. Respir Med Case Rep. 2015 Apr 08;15:27-9. doi: 10.1016/j.rmcr.2015.03.004. eCollection 2015. PMID: 26236594; PMCID: PMC4501473.
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Respir Med Case Rep. 2015 Apr 08;15:27-9. doi: 10.1016/j.rmcr.2015.03.004. eCollection 2015.

Hereditary mucoepithelial dysplasia and severe respiratory distress.

Respiratory medicine case reports

Mahmoud Halawa, Mutasim N Abu-Hasan, Mai K ElMallah

Affiliations

  1. Division of Pulmonary Medicine, Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL 32610, USA.
  2. Division of Pulmonary Medicine and Gene Therapy Center, Department of Pediatrics, College of Medicine, University of Massachusetts Medical School, Worcester, MA 01655, USA.

PMID: 26236594 PMCID: PMC4501473 DOI: 10.1016/j.rmcr.2015.03.004

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.

Keywords: Hereditary mucoepithelial dysplasia; Respiratory distress

References

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