Prenatal diagnosis of harlequin ichthyosis by the examination of keratinized hair canals and amniotic fluid cells at 19 weeks' estimated gestational age.

[harlequin ichthyosis]

Harlequin ichthyosis (HI ) is an extremely severe and usually fatal congenital keratinization disorder whose responsible genes have not yet been identified . For prenatal diagnosis , the fetal skin biopsy is the only available method and has been usually performed at 21 to 22 weeks ' estimated gestational age (wEGA ). Hair canal keratinization is thought to occur around 15 wEGA prior to the interfollicular keratinization , and characteristic abnormalities of HI are known to be expressed more strongly in the hair canal . Thus , we expected the fetal skin specimen at 19 wEGA to have sufficient information for prenatal diagnosis . Fetal skin biopsy was undertaken from a fetus at risk at 19 wEGA . Electron microscopy demonstrated abnormal vacuoles in keratinized cells and malformation of lamellar granules in the hair canal . Clumps of aberrantly keratinized cells containing lipid droplets were seen in the amniotic fluid . The fetus was diagnosed as affected . The abortus at 21 wEGA demonstrated HI phenotype clinically . The present results indicate that the prenatal diagnosis of HI is possible at 19 wEGA , an earlier stage of gestation than previously reported , by the ultrastructural observation of the hair canal and the amniotic fluid cells , but not the interfollicular epidermis , of fetuses at risk .

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Diseases presenting "fetal skin specimen" symptom

harlequin ichthyosis

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