Hereditary hypohidrotic ectodermal dysplasia: report of a rare case

Area of Science:

• Genetics
• Dermatology
• Developmental Biology

Background:

• Hereditary Hypohidrotic Ectodermal Dysplasia (HHED) is an X-linked recessive disorder.
• It typically manifests in males, with females acting as carriers.
• The condition results from abnormal embryonic ectoderm development, affecting ectodermal structures.

Purpose of the Study:

• To report a rare case of HHED in a female patient.
• To highlight the classic clinical features of HHED in this individual.

Main Methods:

• Clinical case presentation.
• Review of diagnostic criteria for HHED.

Main Results:

• A 19-year-old female presented with classic features of HHED.
• The patient exhibited hypohidrosis, hypotrichosis, and hypodontia.

Conclusions:

• HHED can occur in females, albeit rarely.
• This case underscores the importance of considering HHED in females with characteristic ectodermal dysplasia symptoms.