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Am J Med Genet A. 2014 Oct;164A(10):2478-81. doi: 10.1002/ajmg.a.36600. Epub 2014 May 19.

Respiratory problems in patients with ectodermal dysplasia syndromes.

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Department of Child Health, University of Missouri School of Medicine, Columbia, Missouri.


The ectodermal dysplasias (EDs) are a heterogeneous group of disorders characterized by a deficiency of ectoderm- and mesoderm-derived tissues and appendages, particularly hair, skin, teeth, and nails. Many of these disorders are associated with a greater risk of respiratory disease than found in the general population. There are no published papers that comprehensively describe these findings and the possible etiologies. Patients have been reported with dramatic decrease in mucous glands in the respiratory tract. Anatomic defects, including cleft palate, that predispose to respiratory infection, are associated with several of the ED syndromes. Atopy and immune deficiencies have been shown to have a higher prevalence in ED syndromes. Clinicians who care for patients affected by ED syndromes should be aware of the potential respiratory complications, and consider evaluation for structural anomalies, atopy and immunodeficiency in individuals with recurrent or chronic respiratory symptoms.


atopy; ectodermal dysplasia; immunodeficiency; respiratory

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