The Expression of Congenital Ichthyosiform Erythroderma in Second Trimester Fetuses of the Same Family: Morphologic and Biochemical Studies

Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses

“…The skin biopsy specimens in those cases revealed hyperkeratosis of the follicular epidermis and abnormal vacuoles within keratinized cells. It has been shown that there is significant regional variability in the expression of the disease phenotype around the time of onset of the disease in utero in lamellar ichthyosis, another severe congenital ichthyosis (Holbrook et al, 1988), and that regional variation in the onset of the disorder appears to correlate with the regional rate of epidermal differentiation (Holbrook and Odland, 1980). We might expect similar phenomena in HI that the expression of the HI phenotype may be different depending on the sites of the body surface of the second trimester affected fetus.…”

“…To date, samples of fetal skin obtained in the late second trimester of gestation have revealed expression of an HI phenotype in affected individuals (Elias et al, 1980;Blanchet-Bardon et al, 1983;Suzumori and Kanzaki, 1991;; however, consistency of expression of the morphological traits among multiple body sites has not been reported. If the number and size of the biopsy specimens are small or the specimens are not obtained from the intended site, it may be possible to misdiagnose an affected fetus as normal, as has been the case with a misdiagnosis of a fetus affected with lamellar ichthyosis (Holbrook et al, 1988). The present study was undertaken, therefore, to study the expression of abnormalities of HI in skin specimens from a variety of regions of the body including the scalp, face, trunk, extremities, digits, palms and soles, and tongue from three fetuses affected with HI, using light and electron microscopy, immunohistochemistry, and immunoblot analysis.…”

Analysis of Skin-Derived Amniotic Fluid Cells in the Second Trimester; Detection of Severe Genodermatoses Expressed in the Fetal Period

“…For the prenatal diagnosis of several genodermatoses, morphologic analysis of amniotic fluid could provide important information [11,[13][14][15][16]. We have observed the characteristic morphologic abnormalities in the keratinocytes present in amniotic fluid samples from the fetuses affected with harlequin ichthyosis and lamellar ichthyosis and the amniotic fluid findings are thought to be of diagnostic value in the fetuses at risk of these ichthyoses.…”

“…The aggregated cells had increased numbers of lipid droplets in the cytoplasm (Fig 2c). Rings of keratinized cells were also observed in amniotic fluid pellets from a fetus affected witb lamellar ichthyosis [14]. These were presumed to be derived from hyperkeratotic hair follicles.…”

Severe congenital ichthyosis of the neonate

“…Prenatal diagnosis of NBCIE and LI is thought to be possible by the observation of fetal skin samples, although it is risky because the disorders show regional, personal, and familial variability in their expression. 57 , 63 In LI families with transglutaminase gene mutation, 29 · 30 transglutaminase activity assay of fetal skin samples may be useful in prenatal diagnosis because transglutaminase activity is already expressed in fetal skin. 64 , 65 Furthermore, prenatal diagnosis by mutation analysis will be possible in the near future.…”