Ectodermal Dysplasia: Otolaryngologic Manifestations and Management

Authors

  • Elena Daniel MD,

    Corresponding author
    1. Department of Otolaryngology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, U.S.A.
    • Elena Daniel, MD, Department of Otolaryngology, Wake Forest University Medical Center, Winston-Salem, NC 27157, U.S.A.
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  • Elizabeth A. McCurdy MSIV,

    1. Department of Otolaryngology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, U.S.A.
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  • Vandana Shashi MD,

    1. Department of Genetics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, U.S.A.
    2. Department of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, U.S.A.
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  • William F. McGuirt Jr., MD

    1. Department of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, U.S.A.
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  • Presented at the Meeting of the Southern Section of the Triological Society, Captiva Island, FL, January 11, 2002.

Abstract

Objective To present the otolaryngologic manifestations and management of 12 patients with the rare presentation of ectodermal dysplasia.

Study Design A retrospective chart review combined with a patient evaluation by the specialties of genetics, dermatology, dentistry, and otolaryngology.

Methods A review of the head and neck manifestations of the spectrum of ectodermal dysplasia was undertaken by a retrospective chart review performed at a tertiary care children's hospital combined with a multidisciplinary evaluation by specialties of genetics, dermatology, dentistry, and otolaryngology.

Results All 12 patients had confirmed ectodermal dysplasia by genetic evaluation with strong familial manifestations of the spectrum. Seven of 12 patients presented with X-linked hypohidrotic ectodermal dysplasia. Three of these seven were female patients and presented with variable expression. Common otolaryngologic manifestations included eczematoid skin changes, unusual facies, hypodontia, sparse scalp hair, chronic infections (rhinitis, pharyngitis, otitis media), epistaxis, ocular drying with corneal injury, dysphagia, hearing loss, and dysphonia. Immune evaluation was normal. Nasal cilia were deficient.

Conclusions Ectodermal dysplasia is a rare syndrome with heterogeneous manifestations secondary to hypoplasia of the mucous glands of the upper aerodigestive tract and ectodermal abnormalities. The spectrum is marked by hypohidrosis, recurrent ocular infections, chronic rhinitis, hypodontia, dystrophic nails, alopecia, and atypical facies. The recognition of this syndrome allows early management of ocular, dental, infectious, and dermatologic concerns with a multidisciplinary approach to management. Direct otolaryngologic management includes ocular and oral lubrication, treatment of infectious complications, and intervention to prevent and address hearing loss.

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