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

Prenatal diagnosis of harlequin ichthyosis: a case report

• Vijayakumari M
• Reddy DK
• Routhu M
• Vuchuru M
• Reddy NS

• KMID: 2467937
• DOI: http://doi.org/10.5468/ogs.2020.63.1.94

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

Figure

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  Fig. 1 (A) Polyhydramnios with echogenic internal echoes. (B) Edematous eyelids. (C) Three-dimensional image showing ectropion and eclabium and fixed and hyperflexed fingers which are typical features of HI. (D) Fetal face showing characteristic features of ichthyosis. Left: protruding eyes; right: showing open mouth with thick lips.

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  Fig. 2 (A) Showing dysplastic ears. (B) Fixed and hyperflexed fingers. (C) After birth showing typical features of thick scaly skin, ecclabium, absent nose ectropion and fixed flexion deformity of toes and fingers.

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