Hypohidrotic ectodermal dysplasia
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A young boy has sparse hair, conical teeth, and heat intolerance. His mother reports he rarely sweats and had multiple febrile episodes as an infant.
- XLR: EDA (most common)
- AR/AD: EDAR, EDARADD
- Hypohidrosis/anhidrosis → heat intolerance, hyperthermia
- Hypotrichosis (sparse scalp hair, eyebrows, eyelashes)
- Hypodontia with conical teeth
- Characteristic facies: frontal bossing, saddle nose, periorbital darkening
- Clinical recognition of the triad (hypotrichosis, hypodontia, hypohidrosis) supported by dental imaging showing missing or conical teeth
- Reduced or absent sweat pores on skin biopsy or sweat-pore counting; sweat testing confirms hypohidrosis
- Molecular testing (EDA, EDAR, EDARADD) confirms the diagnosis and clarifies inheritance for carrier counseling
- Temperature regulation: avoid overheating, use cooling measures, and treat fever promptly to prevent hyperthermia
- Dental rehabilitation with prosthetics, implants, or dentures, often beginning in early childhood
- Skin and mucosal care for dryness; eye lubrication and management of recurrent respiratory secretions
- Multidisciplinary follow-up (dental, dermatology, ENT) and genetic counseling for at-risk relatives