Ectodermal dysplasia (anhidrotic)
ICD-10 Q82.4 is a billable code used to indicate a diagnosis of ectodermal dysplasia (anhidrotic).
Ectodermal dysplasia (anhidrotic) is a genetic disorder characterized by the abnormal development of ectodermal structures, which include skin, hair, nails, teeth, and sweat glands. The anhidrotic form, also known as hypohidrotic ectodermal dysplasia, is marked by a reduced ability to sweat due to the absence or malformation of sweat glands, leading to an increased risk of overheating. Patients often present with sparse hair, missing or conical teeth, and dry skin. The condition can also be associated with other congenital malformations, such as breast and nipple abnormalities, and may involve chromosomal abnormalities, particularly in syndromic forms. Diagnosis is typically made through clinical evaluation, family history, and genetic testing to identify mutations in genes such as EDA, EDAR, and EDARADD. Management focuses on symptomatic treatment, including dental care, skin care, and temperature regulation strategies.
Pediatric documentation should include growth parameters, developmental milestones, and detailed descriptions of skin and hair abnormalities.
Common scenarios include infants presenting with heat intolerance, dental issues, and skin infections due to impaired sweating.
Consideration must be given to the age of the patient and the potential for evolving symptoms over time.
Genetic documentation should include family history, results of genetic testing, and any syndromic associations.
Genetic counseling scenarios often involve discussing inheritance patterns and implications for family members.
Accurate coding requires understanding of the genetic basis of the condition and its potential implications for other family members.
Used for follow-up visits in patients with ectodermal dysplasia.
Document history, examination findings, and any management plans.
Pediatricians should focus on growth and development assessments.
Common symptoms include sparse hair, missing teeth, dry skin, and an inability to sweat, which can lead to overheating.
