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KID syndrome: response to acitretin.

Bijaylaxmi Sahoo1, Sanjeev Handa, Inderjeet Kaur

  • 1Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

The Journal of Dermatology
|September 14, 2002
PubMed
Summary
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Keratitis, Ichthyosis, and Deafness (KID) syndrome is rare. Acitretin effectively treated hyperkeratotic lesions in a teenage girl, showing promise for KID syndrome management.

Area of Science:

  • Dermatology
  • Genetics
  • Ophthalmology

Background:

  • Keratitis, Ichthyosis, and Deafness (KID) syndrome is a rare autosomal dominant disorder.
  • Characterized by congenital ichthyosis, facial and extremity hyperkeratosis, sensorineural hearing loss, and ocular abnormalities like keratitis.
  • Genetic basis involves mutations in the GJB2 gene, encoding connexin 26.

Observation:

  • A 17-year-old female presented with widespread ichthyosis, a reddish facial hue, and symptoms of deafness and keratitis since childhood.
  • Clinical presentation was consistent with a diagnosis of KID syndrome.
  • The patient exhibited universal ichthyotic erythroderma affecting the face, trunk, and extremities.

Findings:

  • Treatment with acitretin resulted in significant clearance of hyperkeratotic ichthyotic lesions.

Related Experiment Videos

  • Acitretin demonstrated minimal impact on the severity of keratitis and the degree of hearing loss.
  • The therapeutic response suggests a targeted effect on the hyperkeratosis component of KID syndrome.

    • Implications:

    • Acitretin represents a potentially effective therapeutic option for managing the ichthyotic manifestations of KID syndrome.
    • Further research is warranted to explore the efficacy and safety of acitretin in a larger cohort of KID syndrome patients.
    • This case highlights the importance of early diagnosis and tailored treatment strategies for rare genetic dermatological disorders.