Obstet Gynecol Sci.  2020 Jan;63(1):94-97. 10.5468/ogs.2020.63.1.94.

Prenatal diagnosis of harlequin ichthyosis: a case report

Affiliations
  • 1Department of Radiology, Osmania Medical College, Hyderabad, India.
  • 2Sravya Diagnostics, Hyderabad, India.
  • 3Department of Radiology, MGM Hospital, Warangal, India. madhaviradiologist@gmail.com
  • 4Department of Radiology Niloufer Hospital, Hyderabad, Telangana, India.

Abstract

Harlequin ichthyosis (HI) is a rare and severe form of ichthyosis and is characterized by thickened, hard, armor-like plates of skin that cover the entire body. This disease is caused by mutations in the adenosine triphosphate-binding cassette transporter protein A12 gene, and the pattern of inheritance is autosomal recessive. Prenatal sonographic diagnosis of HI has not been frequently reported. Here, we report a case of HI detected at 28 weeks of gestation and discuss with the sonographic findings and a brief review of literature. The diagnosis was reached mainly based on 2-dimensional and 3-dimensional ultrasound findings. Three-dimensional ultrasound applications help recognize facial morphology, and thus, greatly contributes to prenatal diagnoses.

Keyword

Harlequin ichthyosis; Neonates; Keratinizing disorder; Prenatal diagnosis

MeSH Terms

Adenosine
Diagnosis
Humans
Ichthyosis
Ichthyosis, Lamellar*
Infant, Newborn
Pregnancy
Prenatal Diagnosis*
Skin
Ultrasonography
Wills
Adenosine
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