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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
Summary
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.
- 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.