Abstract
We present a case of a collodion baby, born from consanguineous parents. After a few weeks the collodion membrane peeled away and all that was left was a mild dry skin. Genetic testing revealed a homozygous mutation in the transglumatinase-1 gene. This mutation has never been associated with self healing collodion, but it has been reported as a cause of lamellar ichthyosis in two sisters. This new insight will help elucidating the genotypic spectrum of self healing/self improving collodion babies and provides new information on the prognosis of future collodion babies with this particular mutation.
| Translated title of the contribution | Self-healing collodion baby: A new mutation |
|---|---|
| Original language | Dutch |
| Pages (from-to) | 72-74 |
| Number of pages | 3 |
| Journal | Nederlands Tijdschrift voor Dermatologie en Venereologie |
| Volume | 29 |
| Issue number | 4 |
| Publication status | Published - 1 Apr 2019 |
Keywords
- Self-healing collodion baby
- Self-improving collodion baby
- TGM1 gene