Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis
Harlequin Ichthyosis (HI) is an extremely rare genetic skin disorder. It is the most severe type of ichthyosis. It is characterized by thickened, dry, rough and armor like plates of skin with deep cracks in between. Alternative names for HI include- keratosis diffusafetalis, ichthyosis congenital,...
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doaj-939d3f16886b43ff93d57d3b62788cba2020-11-25T03:48:38ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2015-11-01911QD04QD0610.7860/JCDR/2015/15250.6705Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic DermatosisSwati Rathore0Liji Sarah David1Manisha Madhai Beck2Mandeep Singh Bindra3Gautham Arunachal4Assistant Professor, Department of Obstetrics and Gynaecology, Christian Medical College, Vellore, Tamil Nadu, India.Assistant Professor, Department of Obstetrics and Gynaecology, Christian Medical College, Vellore, Tamil Nadu, India.Associate Professor, Department of Obstetrics and Gynaecology, Christian Medical College, Vellore, Tamil Nadu, India.Assistant Professor, Department of General Pathology, Christian Medical College, Vellore, Tamil Nadu, India.Assistant Professor, Department of Medical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.Harlequin Ichthyosis (HI) is an extremely rare genetic skin disorder. It is the most severe type of ichthyosis. It is characterized by thickened, dry, rough and armor like plates of skin with deep cracks in between. Alternative names for HI include- keratosis diffusafetalis, ichthyosis congenital, icthyosis fetalis, harlequin fetus and icthyosis congenital gravior. It is an autosomal recessive disorder with the majority of affected individuals being homozygous for mutation in the ABCA 12 gene. This condition presents with a wide range of severity and symptoms. Affected neonates usually do not survive beyond first few days of life. We are presenting prenatal diagnosis of a case of this rare condition.https://jcdr.net/articles/PDF/6705/15250_CE(RA1)_F(T)_PF1(EKAK)_PFA(AK)_PF2(PAG).pdfeclabiumectropionharlequin fetus |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Swati Rathore Liji Sarah David Manisha Madhai Beck Mandeep Singh Bindra Gautham Arunachal |
spellingShingle |
Swati Rathore Liji Sarah David Manisha Madhai Beck Mandeep Singh Bindra Gautham Arunachal Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis Journal of Clinical and Diagnostic Research eclabium ectropion harlequin fetus |
author_facet |
Swati Rathore Liji Sarah David Manisha Madhai Beck Mandeep Singh Bindra Gautham Arunachal |
author_sort |
Swati Rathore |
title |
Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis |
title_short |
Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis |
title_full |
Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis |
title_fullStr |
Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis |
title_full_unstemmed |
Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis |
title_sort |
harlequin ichthyosis: prenatal diagnosis of a rare yet severe genetic dermatosis |
publisher |
JCDR Research and Publications Private Limited |
series |
Journal of Clinical and Diagnostic Research |
issn |
2249-782X 0973-709X |
publishDate |
2015-11-01 |
description |
Harlequin Ichthyosis (HI) is an extremely rare genetic skin disorder. It is the most severe type of ichthyosis. It is characterized by
thickened, dry, rough and armor like plates of skin with deep cracks in between. Alternative names for HI include- keratosis diffusafetalis,
ichthyosis congenital, icthyosis fetalis, harlequin fetus and icthyosis congenital gravior. It is an autosomal recessive disorder with the
majority of affected individuals being homozygous for mutation in the ABCA 12 gene. This condition presents with a wide range of
severity and symptoms. Affected neonates usually do not survive beyond first few days of life. We are presenting prenatal diagnosis of
a case of this rare condition. |
topic |
eclabium ectropion harlequin fetus |
url |
https://jcdr.net/articles/PDF/6705/15250_CE(RA1)_F(T)_PF1(EKAK)_PFA(AK)_PF2(PAG).pdf |
work_keys_str_mv |
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