Intra-adrenal bile ductules associated with adreno-hepatic fusion: a possible origin for adrenal epithelial cysts.

AIMS: To elucidate the relationship between the rare phenomenon of adrenal cysts and adreno-hepatic fusion (AHF)-related intra-adrenal bile ductules. METHODS AND RESULTS: We examined 673 right and 662 left postmortem adrenal glands. AHF was defined as an adhesion between the liver and an adrenal with closely intermingled parenchymal cells or partial absence of the capsule dividing the two organs. AHF was found in seven (1.0%) right adrenals. AHF-related intra-adrenal bile ductules were observed in four (0.6%) adrenals, and were accompanied by aberrant hepatocytes (two adrenals), microcystic changes (two adrenals) and, in one case, a 15-mm-sized cyst. The cyst-lining cells, which focally resembled the cells of the neighbouring intra-adrenal bile ductules, were positive for cytokeratin 7 (CK7), CK19 and epithelial membrane antigen, and negative for CK20, vimentin, CD34 and calretinin. Identical findings were made in bile ductules located within fused adrenals and livers. CD10 staining was weaker or absent in the microcystic or cystic bile ductules found within adrenals. CONCLUSIONS: The 15-mm cyst we describe may have been an adrenal epithelial cyst derived from AHF-related intra-adrenal bile ductules, a possible pathogenesis for the rare phenomenon of right adrenal epithelial cysts.

Two case reports: Early detection of amniotic band syndrome by adhesion between hand and umbilical cord at 11 to 14 weeks' gestation.

RATIONALE: The significant ultrasonic characteristics of amniotic band syndrome (ABS) are the malformations of fetal affected parts and the band-like echoes in amniotic cavity. This article first suggests that the fetal hand adhered to umbilical cord with restricted movement provides some values in the diagnosis of ABS in early gestational weeks especially when the fetal malformation is not obvious and amniotic band is thin and fine. PATIENT CONCERNS: Two pregnant women had no discomfort and underwent routine ultrasound examination at 11 to 14 gestational weeks. DIAGNOSIS: Only the fetal hand adhered to umbilical cord with restricted movement was detected during the first ultrasound examination at 11∼14 gestational weeks, and the floating band-like echos were detected in the amniotic cavity with follow-up examinations 2 to 3 weeks later. Both of the 2 fetus were diagnosed as ABS by ultrasound INTERVENTIONS:: The two pregnant women underwent the prenatal counseling and were recommended closely follow-up and further examination. OUTCOMES: Two fetuses died in utero between 17 and 19 weeks. After induction of labor, it was found that the hands and umbilical cord of the fetuses were wrapped by amniotic bands, which was proved pathologically as ABS. LESSONS: The adhesion of the fetal hand and umbilical cord is an important ultrasonic sign suggesting ABS with poor prognosis in early pregnancy. We hope that this study can provide some guidance for the early diagnosis of ABS during 11 to 14 week's ultrasound examination.

IRF6 and SPRY4 Signaling Interact in Periderm Development.

Rare mutations in IRF6 and GRHL3 cause Van der Woude syndrome, an autosomal dominant orofacial clefting disorder. Common variants in IRF6 and GRHL3 also contribute risk for isolated orofacial clefting. Similarly, variants within genes that encode receptor tyrosine kinase (RTK) signaling components, including members of the FGF pathway, EPHA3 and SPRY2, also contribute risk for isolated orofacial clefting. In the mouse, loss of Irf6 or perturbation of Fgf signaling leads to abnormal oral epithelial adhesions and cleft palate. Oral adhesions can result from a disruption of periderm formation. Here, we find that IRF6 and SPRY4 signaling interact in periderm function. We crossed Irf6 heterozygous ( Irf6+/-) mice with transgenic mice that express Spry4 in the basal epithelial layer ( TgKRT14::Spry4). While embryos with either of these mutations can have abnormal oral adhesions, using a new quantitative assay, we observed a nonadditive effect of abnormal oral epithelial adhesions in the most severely affected double mutant embryos ( Irf6+/-;TgKRT14::Spry4). At the molecular level, the sites of abnormal oral adhesions maintained periderm-like cells that express keratin 6, but we observed abnormal expression of GRHL3. Together, these data suggest that Irf6 and RTK signaling interact in regulating periderm differentiation and function, as well as provide a rationale to screen for epistatic interactions between variants in IRF6 and RTK signaling pathway genes in human orofacial clefting populations.