Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis
Published: November 1, 2015 | DOI: https://doi.org/10.7860/JCDR/2015/.6705
Swati Rathore, Liji Sarah David, Manisha Madhai Beck, Mandeep Singh Bindra, Gautham Arunachal
1. Assistant Professor, Department of Obstetrics and Gynaecology, Christian Medical College, Vellore, Tamil Nadu, India.
2. Assistant Professor, Department of Obstetrics and Gynaecology, Christian Medical College, Vellore, Tamil Nadu, India.
3. Associate Professor, Department of Obstetrics and Gynaecology, Christian Medical College, Vellore, Tamil Nadu, India.
4. Assistant Professor, Department of General Pathology, Christian Medical College, Vellore, Tamil Nadu, India.
5. Assistant Professor, Department of Medical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.
Correspondence
Dr. Swati Rathore,
Assistant Professor, Department of Obstetrics and Gynaecology Unit 5,
Christian Medical College, Vellore, Tamil Nadu-632004, India.
E-mail: drswatix@yahoo.com
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.
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