Intra‐amniotic debris identified at ultrasound scanning: a feature of congenital ichthyosis

Abstract

A case is described in which intra-amniotic debris was identified during an ultrasound scan in a woman with polyhydramnios at 33 weeks' gestation. At delivery the neonate was found to have severe ichthyosis involving the whole of her head, trunk and limbs, with large plaques of hyperkeratotic skin on the palms of her hands and the soles of her feet. The finding of excessive debris in association with polyhydramnios should raise the possibility of an exfoliative skin disorder.

Prenatal sonographic assessment and perinatal course of ichthyosis prematurity syndrome

“…In our study, polyhydramnios was consistently present between 29 and 32 weeks. Polyhydramnios was also found in some cases of fetal Harlequin ichthyosis4, 16, while other Harlequin cases have been described with normal amounts of amniotic fluid, or even oligohydramnios due to PPROM5, 17. PPROM seems to be common in fetal ichthyosis, which may be due to polyhydramnios, although pathology of the fetal membranes may also be an etiological factor17.…”

“…Echogenic sediment in the amniotic fluid is due to skin debris from the hyperkeratotic disorder and seems to be a common finding in fetal ichthyoses8, 16, 17, 21. It is more dense at the lower part of the amniotic sac, and moves because of gravity when the pregnant woman changes position.…”

Expecting the most unexpected – a harlequin baby! A case report and literature analysis

“…The "snowflake sign" reflecting skin particles floating in the amniotic cavity, intra-amniotic debris or floating membranes might be another indirect sign (Tabl. I) [18][19][20]. Polyhydramnios has been proposed as a marker of congenital ichthyosis [18].…”

“…Definite prenatal diagnosis of HI is based upon the examination of fetal skin biopsy samples obtained after 19-23 weeks' gestation. Samples taken from the scalp will give a surer early diagnosis but are more difficult and more risky [20]. The use of three-dimensional ultrasound diagnosis does not appear to have been widely adopted, though useful.…”

Bébé collodion et syndrome de détresse respiratoire

“…En présence d'antécédents familiaux, le diagnostic peut être facilement évoqué, comme c'est le cas dans la première observation. En l'absence d'antécédents, la recherche d'un aspect neigeux du liquide amniotique et d'un épaississement cutané est indispensable pour orienter le diagnostic [3]. L'hydramnios pourrait expliquer la naissance prématurée, comme c'est le cas dans nos quatre observations.…”