Chief Complaint: An 8 year old male patient came to the Department of Pediatric Dentistry with chief complaint of absence of teeth since early childhood. The mother also reports that the child does not sweat normally and exhibits marked intolerance to heat.
History of Present Illness: The parents report that the child has been completely edentulous since early childhood. Due to the absence of teeth, the patient has experienced persistent difficulty in chewing solid foods.
Past History:
- No major systemic illness.
- History of recurrent episodes of unexplained high fever during summer.
- Hypohydrosis1
.Family History:
- Similar complaints in a maternal uncle.
- Suggestive of X-linked inheritance.
General Examination:
- Child is ectomorphic.
- Skin appears dry and thin.
- Sparse, fine, light-colored scalp hair (hypotrichosis).
- Absent eyebrows and eyelashes in some areas.
- Nails appear normal.
- Heat intolerance noted during clinical visit.
Extraoral Findings:
- Frontal bossing.
- Depressed nasal bridge (“saddle nose”).
- Protruded, thick everted lips (“old man” appearance).
- Intraoral findings: Completely edentulous arch.
- Dry oral mucosa.
- Ridge resorption leading to reduced vertical dimension of occlusion.
Diagnosis: HYPOHIDROTIC ECTODERMAL DYSPLASIA