Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
A 24-year-old woman (gravida 2, para 1) was referred at 30 week gestation due to an abnormal fetal profile on prenatal ultrasound and reduced fetal movements. Our ultrasound examination showed the typical dysmorphic facial features of harlequin ichthyosis (HI) including ectropion of the eyelids, outward turning of the lip (eclabium) with an open mouth, and the typical profile. In addition, the joints were immobile and the position of the fingers and toes was abnormal. Interestingly, respiratory movements were still visible. After counseling, the couple decided to terminate the pregnancy Fig. 1.
Fig. 1
3D image of the face with an open mouth (upper left), profile (lower right), and ectropion (denoted by arrows) (lower left). The upper right is a corresponding postnatal image
×
The figure includes some typical features of HI on ultrasound: 3D image of the face with an open mouth (upper left), profile (lower right), and ectropion (denoted by arrows) (lower left). The upper right is a corresponding postnatal image.
Anzeige
HI is a severe and rare autosomal recessive ichthyosis with a prevalence of approximately 1 in 300 000 births [1]. The disease is caused by a mutation in the lipid transporter adenosine triphosphate-binding cassette A 12 (ABCA12) [2]. Prenatally, typical signs of the disease, such as ectropion, eclabium, dense suspended particles in the amniotic fluid, rudimentary ears, and contractures, are not detectable until the second trimester, so early detection in pregnancy is not possible. Affected children also show armor-like thickening of the skin, which can lead to pseudocontractures and necrosis.
Therapy for HI includes intensive neonatal care and administration of retinoids such as oral acitretin within the first 7 days of life. Even though this therapeutical approach improves the survival rate, 75% of the neonates still die within the first 3 months of life, usually due to sepsis or respiratory failure [3, 4].
Declarations
Conflict of interest
The authors have not disclosed any competing interests.
Ethical approval
No ethical approval was required.
Anzeige
Consent to participate
Written informed consent was obtained from the parents.
Consent to publish
The authors affirm that the human research participants provided informed consent for publication of the images. All authors have agreed to publish this manuscript in Archives of Gynecology and Obstetrics.
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Mit e.Med Gynäkologie erhalten Sie Zugang zu CME-Fortbildungen der beiden Fachgebiete, den Premium-Inhalten der Fachzeitschriften, inklusive einer gedruckten gynäkologischen oder urologischen Zeitschrift Ihrer Wahl.
Ein höheres Alter bei der Diagnose eines Endometriumkarzinoms ist mit aggressiveren Tumorcharakteristika assoziiert, scheint aber auch unabhängig von bekannten Risikofaktoren die Prognose der Erkrankung zu verschlimmern.
In einer Leseranfrage in der Zeitschrift Journal of the American Academy of Dermatology möchte ein anonymer Dermatologe bzw. eine anonyme Dermatologin wissen, ob er oder sie einen Patienten behandeln muss, der eine rassistische Tätowierung trägt.
Auch für Trägerinnen von BRCA-Varianten gilt: Erkranken sie fünf bis zehn Jahre nach der letzten Schwangerschaft an Brustkrebs, ist das Sterberisiko besonders hoch.
In den USA erhalten nicht wenige Frauen auch noch im Alter über 65 eine menopausale Hormontherapie. Welche positiven und negativen gesundheitlichen Konsequenzen daraus möglicherweise resultieren, wurde anhand von Versicherungsdaten analysiert.
Update Gynäkologie
Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert – ganz bequem per eMail.
