PMID: 7371219Apr 1, 1980Paper

Prenatal diagnosis of harlequin ichthyosis

Clinical Genetics
S EliasJ L Simpson

Abstract

We report the successful prenatal diagnosis of ichthyosis in the fetus of a woman whose previous liveborn child was affected with "harlequin ichthyosis". The fetal diagnosis was established through analysis of ultrasonographically guided fetoscopic skin biopsies. These biopsies showed premature hyperkeratosis, most marked around hair follicles and sweat ducts, and forming plugs of hyperkeratotic debris. These observations were in distinct contrast to those in control fetuses, whose epidermis consists of squamous epithelium only a few cells in depth with minimal keratinization.

References

Jan 25, 1979·The New England Journal of Medicine·P E NewburgerM J Mahoney
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Citations

Mar 1, 1986·Indian Journal of Pediatrics·S ThoraK K Kaul
May 1, 1984·The Australian & New Zealand Journal of Obstetrics & Gynaecology·C H Rodeck
Jan 1, 1990·Prenatal Diagnosis·V A Bakharev Yantovsky YuR
Apr 1, 1987·The British Journal of Dermatology·P UnamunoJ A Velasco
Oct 1, 1983·Pediatric Dermatology·K A Holbrook
Nov 1, 1986·Indian Journal of Pediatrics·A Zwinger
Mar 1, 1993·Journal of Genetic Counseling·P N Olney, R S Olney
Jan 1, 1985·Human Genetics·M L Arnold, I Anton-Lamprecht
Apr 6, 2011·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·H G K BlaasS H Eik-Nes
May 1, 1984·Indian Journal of Pediatrics·L S AryaM Singh
Jun 6, 1987·Lancet·W O Taylor
Jan 18, 2020·The Indian Journal of Radiology & Imaging·Kiran A KaleAnita Kaul
May 1, 1983·Journal of the American Academy of Dermatology·N B Esterly, S Elias

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