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Ichthyosis, deafness, and Hirschsprung's disease.
S B Mallory1, L S Haynie, M L Williams
1University of Arkansas for Medical Sciences, Little Rock.
Pediatric Dermatology
|March 1, 1989
Summary
A rare case report details an infant with congenital ichthyosis and deafness who developed Hirschsprung disease. This presentation suggests a potential link to KID syndrome, even without corneal involvement.
Area of Science:
- Genetics and rare diseases
- Pediatric medicine
- Dermatology
Background:
- Congenital ichthyosis and deafness are rare conditions.
- Hirschsprung disease involves aganglionic megacolon.
- KID syndrome (keratitis, ichthyosis, deafness) is a rare genetic disorder.
Observation:
- An infant presented with congenital ichthyosis and deafness.
- The infant subsequently developed Hirschsprung disease.
- No signs of keratitis were observed in the infant.
Findings:
- This case is the first to associate ichthyosis with aganglionic megacolon.
- The combination of ichthyosis and deafness in the infant supports a possible diagnosis of KID syndrome.
- The absence of keratitis did not rule out KID syndrome in this infant.
Implications:
- This case expands the phenotypic spectrum of KID syndrome.
- Highlights the importance of considering KID syndrome in infants with ichthyosis and neurological complications.
- Suggests potential genetic links between ichthyosis, deafness, and gastrointestinal motility disorders.