Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Hypohidrotic Ectodermal Dysplasia

System/ConcernEvaluationComment
Hair Assess severity of hypotrichosis.
Skin Assess severity of hypohidrosis incl episodes of hyperthermia.
Dental Dental eval to assess jaws, alveolus, & developing dentition by age 1 yrTypically by palpating dental alveolus to establish if developing tooth buds (which manifest as bulges in alveolus) are present
Panoramic or conventional dental radiographsAs needed to determine extent of hypodontia & inform treatment planning
ENT Assess for solidified secretions in nasal & aural passages.
Eyes Ophthalmologic evalTo assess for dry eyes due to abnormal meibomian glands
Respiratory Assess for recurrent pneumonia & asthma related to abnormal bronchial glands.
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of HED to facilitate medical & personal decision making

HED = hypohidrotic ectodermal dysplasia; MOI = mode of inheritance

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Hypohidrotic Ectodermal Dysplasia

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