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Collodion Baby with TGM1 gene mutation
Deepak Sharma1, Basudev Gupta2, Sweta Shastri3
1Department of Neonatology, Fernandez Hospital, Hyderguda, Hyderabad, Andhra Pradesh, India.
International Medical Case Reports Journal
|October 10, 2015
Summary
Collodion baby (CB) presents at birth with a membrane. A specific TGM1 gene mutation was identified, but the exact ichthyosis subtype remained undetermined due to loss to follow-up.
Area of Science:
- Genetics
- Dermatology
- Neonatology
Background:
- Collodion baby (CB) describes a neonate encased in a taut, membrane-like layer at birth.
- This presentation is a phenotype, not a distinct disease, associated with several ichthyosis subtypes and genetic disorders.
Observation:
- A collodion baby case is presented, highlighting the diagnostic challenges.
- The infant was diagnosed with a specific TGM1 gene mutation (c.984+1G>A).
Findings:
- The identified TGM1 mutation is linked to both lamellar ichthyosis and congenital ichthyosiform erythroderma.
- Distinguishing between these two conditions in this specific case was not possible.
Implications:
- This case underscores the importance of genetic testing in collodion baby diagnosis.
- The inability to determine the precise ichthyosis subtype impacts prognosis and management, emphasizing the need for long-term follow-up.
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