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Holocarboxylase synthetase deficiency presenting as ichthyosis
H Alan Arbuckle1, Joseph Morelli
1Department of Dermatology, University of Colorado School of Medicine, Aurora, USA. alan.arbuckle@uchsc.edu
Pediatric Dermatology
|May 3, 2006
Summary
Holocarboxylase synthetase deficiency, a rare biotin metabolism disorder, can manifest in newborns with a collodion membrane, ichthyosis, and severe acidosis. Early consideration of this diagnosis is crucial for affected infants.
Area of Science:
- Biochemistry
- Genetics
- Neonatology
Background:
- Holocarboxylase synthetase deficiency is a rare autosomal recessive disorder affecting biotin metabolism.
- It typically presents in newborns with severe metabolic acidosis and neurological symptoms.
Observation:
- A newborn presented with a collodion membrane, ichthyosis, and severe metabolic acidosis.
- This clinical presentation prompted further investigation into metabolic disorders.
Findings:
- The newborn was diagnosed with holocarboxylase synthetase deficiency.
- The case highlights a potential association between collodion membrane, ichthyosis, and this specific metabolic disorder.
Implications:
- This case suggests that holocarboxylase synthetase deficiency should be considered in the differential diagnosis of newborns presenting with collodion membrane, ichthyosis, and acidosis.
- Early diagnosis and intervention are critical for improving outcomes in affected infants.
- Further research may elucidate the specific mechanisms linking these clinical features.
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