Ectodermal dysplasia: otolaryngologic manifestations and management.

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 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 femalepatients 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 byhypohidrosis, 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.