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Etretinate in the management of harlequin siblings
R K Pejaver1, R S Prasad, A K Garg
1Department of Pediatrics, North West Armed Forces Hospital Tabuk, Saudi Arabia.
Indian Journal of Pediatrics
|April 20, 2000
Insights
Harlequin fetus, a severe congenital ichthyosis, rarely allows survival. Early oral etretinate treatment in two siblings showed significant skin improvement, with one surviving 22 months.
Area of Science:
- Dermatology
- Genetics
- Neonatal Care
Background:
- Congenital ichthyosis represents a group of keratinization disorders.
- Harlequin fetus is the most severe phenotype, typically associated with extremely poor prognosis.
- Limited therapeutic options exist for this rare and devastating condition.
Observation:
- Two siblings diagnosed with Harlequin fetus were managed.
- Early intervention with oral etretinate was initiated for both infants.
- Close monitoring of skin condition and overall health was performed.
Findings:
- Oral etretinate treatment led to notable improvement in skin barrier function.
- One sibling survived for 22 months, significantly exceeding typical survival expectations.
- The second sibling survived for six weeks, also benefiting from the intervention.
Implications:
- Early administration of oral etretinate may improve outcomes in Harlequin fetus.
- This case series suggests a potential therapeutic avenue for severe congenital ichthyosis.
- Further research is warranted to explore the efficacy and safety of retinoids in neonatal ichthyosis.
Abstract:
Harlequin fetus is the severe form of congenital ichthyosis. There are very few reports of babies with this condition surviving the first few weeks of life. We treated two siblings who lived for 22 months and six weeks respectively. We started treatment with oral etretinate every early in their lives and achieved good improvement in the skin condition of these babies.