Cargando…
Collodion Baby with TGM1 gene mutation
Collodion baby (CB) is normally diagnosed at the time of birth and refers to a newborn infant that is delivered with a lambskin-like membrane encompassing the total body surface. CB is not a specific disease entity, but is a common phenotype in conditions like harlequin ichthyosis, lamellar ichthyos...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove Medical Press
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4590349/ https://www.ncbi.nlm.nih.gov/pubmed/26451124 http://dx.doi.org/10.2147/IMCRJ.S91517 |
_version_ | 1782392915643858944 |
---|---|
author | Sharma, Deepak Gupta, Basudev Shastri, Sweta Pandita, Aakash Pawar, Smita |
author_facet | Sharma, Deepak Gupta, Basudev Shastri, Sweta Pandita, Aakash Pawar, Smita |
author_sort | Sharma, Deepak |
collection | PubMed |
description | Collodion baby (CB) is normally diagnosed at the time of birth and refers to a newborn infant that is delivered with a lambskin-like membrane encompassing the total body surface. CB is not a specific disease entity, but is a common phenotype in conditions like harlequin ichthyosis, lamellar ichthyosis, nonbullous congenital ichthyosiform erythroderma, and trichothiodystrophy. We report a CB that was brought to our department and later diagnosed to have TGM1 gene c.984+1G>A mutation. However, it could not be ascertained whether the infant had lamellar ichthyosis or congenital ichthyosiform erythroderma (both having the same mutation). The infant was lost to follow-up. |
format | Online Article Text |
id | pubmed-4590349 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Dove Medical Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-45903492015-10-08 Collodion Baby with TGM1 gene mutation Sharma, Deepak Gupta, Basudev Shastri, Sweta Pandita, Aakash Pawar, Smita Int Med Case Rep J Case Report Collodion baby (CB) is normally diagnosed at the time of birth and refers to a newborn infant that is delivered with a lambskin-like membrane encompassing the total body surface. CB is not a specific disease entity, but is a common phenotype in conditions like harlequin ichthyosis, lamellar ichthyosis, nonbullous congenital ichthyosiform erythroderma, and trichothiodystrophy. We report a CB that was brought to our department and later diagnosed to have TGM1 gene c.984+1G>A mutation. However, it could not be ascertained whether the infant had lamellar ichthyosis or congenital ichthyosiform erythroderma (both having the same mutation). The infant was lost to follow-up. Dove Medical Press 2015-09-22 /pmc/articles/PMC4590349/ /pubmed/26451124 http://dx.doi.org/10.2147/IMCRJ.S91517 Text en © 2015 Sharma et al. This work is published by Dove Medical Press Limited, and licensed under Creative Commons Attribution – Non Commercial (unported, v3.0) License The full terms of the License are available at http://creativecommons.org/licenses/by-nc/3.0/. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. |
spellingShingle | Case Report Sharma, Deepak Gupta, Basudev Shastri, Sweta Pandita, Aakash Pawar, Smita Collodion Baby with TGM1 gene mutation |
title | Collodion Baby with TGM1 gene mutation |
title_full | Collodion Baby with TGM1 gene mutation |
title_fullStr | Collodion Baby with TGM1 gene mutation |
title_full_unstemmed | Collodion Baby with TGM1 gene mutation |
title_short | Collodion Baby with TGM1 gene mutation |
title_sort | collodion baby with tgm1 gene mutation |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4590349/ https://www.ncbi.nlm.nih.gov/pubmed/26451124 http://dx.doi.org/10.2147/IMCRJ.S91517 |
work_keys_str_mv | AT sharmadeepak collodionbabywithtgm1genemutation AT guptabasudev collodionbabywithtgm1genemutation AT shastrisweta collodionbabywithtgm1genemutation AT panditaaakash collodionbabywithtgm1genemutation AT pawarsmita collodionbabywithtgm1genemutation |