Self-healing collodion baby: Een nieuwe mutatie

C. J.Els de Jonge; J. J. van der Smagt; M. E. van Gijn; M. De Graaf

Self-healing collodion baby: Een nieuwe mutatie

Translated title of the contribution: Self-healing collodion baby: A new mutation

C. J.Els de Jonge^*
, J. J. van der Smagt
, M. E. van Gijn
, M. De Graaf

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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

Cite this

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title = "Self-healing collodion baby: Een nieuwe mutatie",

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.",

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AU - de Jonge, C. J.Els

AU - van der Smagt, J. J.

AU - van Gijn, M. E.

AU - De Graaf, M.

PY - 2019/4/1

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N2 - 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.

AB - 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.

KW - Self-healing collodion baby

KW - Self-improving collodion baby

KW - TGM1 gene

UR - https://www.scopus.com/pages/publications/85076620800

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JO - Nederlands Tijdschrift voor Dermatologie en Venereologie

JF - Nederlands Tijdschrift voor Dermatologie en Venereologie

IS - 4

ER -

Self-healing collodion baby: Een nieuwe mutatie

Abstract

Keywords

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