Prenatal diagnosis of harlequin ichthyosis Article

Elias, S, Mazur, M, Sabbagha, R et al. (1980). Prenatal diagnosis of harlequin ichthyosis . 17(4), 275-280. 10.1111/j.1399-0004.1980.tb00147.x

cited authors

  • Elias, S; Mazur, M; Sabbagha, R; Esterly, NB; Simpson, JL

fiu authors

abstract

  • The authors 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.

publication date

  • January 1, 1980

Digital Object Identifier (DOI)

start page

  • 275

end page

  • 280

volume

  • 17

issue

  • 4