Open AccessHarlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis
Author(s) -
Swati Rathore,
Liji Sarah David,
Manisha Madhai Beck,
Mandeep Singh Bindra,
Gautham Arunachal
Publication year - 2015
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2015/15250.6705
Subject(s) - congenital ichthyosis , ichthyosis , dermatology , hydrops fetalis , prenatal diagnosis , medicine , congenital disorder , genetic disorder , dyskeratosis , fetus , pediatrics , pregnancy , genetics , hyperkeratosis , biology , pathology , surgery , disease
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.