What prenatal ultrasound features are predictable of complex or vanishing gastroschisis? A retrospective study.

OBJECTIVE: To evaluate prenatal ultrasound parameters as prognostic factors for complex and vanishing gastroschisis. METHODS: Retrospective multicentre study of 200 gastroschisis over 13 years (2000-2013). Collection of prenatal ultrasound evaluation on maternal and fetal growth parameters, intra- and extra-abdominal bowel and stomach dilation, abdominal wall defect diameter and changes in bowel appearance. Correlation of these factors with the presence of mechanical intestinal complications at birth, named 'complex gastroschisis'. RESULTS: Fifty-two patients (26%) had complex gastroschisis (CG), including ten vanishing gastroschisis. The presence of intra-abdominal bowel dilation at the second (T2) or third (T3) trimester ultrasound was predictive for CG, with odds ratios at 6.69 (95%CI 2.41-18.55) and 4.72 (95%CI 2.16-10.28), respectively, with a cut-off value at the last examination of >19 mm. A small abdominal wall defect diameter was also predictive for CG, with cut-off values of <9.2 mm at T2 and <12.5 mm at T3. Vanishing gastroschisis recorded earlier intra-abdominal bowel dilation diagnosis, associated with a small wall defect and no extra-abdominal dilation. CONCLUSION: Intra-abdominal bowel dilation and a small abdominal wall defect diameter accurately predict CG and could be a first sign of vanishing gastroschisis when they occur early. © 2016 John Wiley & Sons, Ltd.

PTCH1 mutation and local aggressiveness of odontogenic keratocystic tumors in children: is there a relationship?

Keratocystic odontogenic tumors (KCOTs) are locally aggressive jaw lesions that may be related to PTCH1 mutations in isolation or in association with nevoid basal cell carcinoma syndrome. We sought to clarify the role of PTCH1 mutation in KCOT aggressiveness. We assessed cyst pathological characteristics, Ki-67 immunostaining, and somatic and germinal PTCH1 mutation in 16 KCOTs from 10 unrelated patients. Ten PTCH1 mutations were identified in 16 tumors. All tumors with PTCH1 mutations presented the criteria of pathological aggressiveness. We also noted the presence of a chorionic epithelial structure apparently acting as a secondary germinal center in these same tumors. Ki-67 immunostaining was not associated with PTCH1 mutation. KCOTs harboring the mutation display a chorionic epithelial structure that acts as a secondary germinal center. Genetic and microenvironmental factors might interact to propel tumor development.

Isolated infantile myofibromatosis of the upper eyelid: uncommon localization and long-term results after surgical management.

Myofibroma, the most common juvenile fibrous disorder in infancy, usually manifests as a solitary soft tissue tumor and less commonly as simultaneous multiple tumors in both soft tissue and bones. Infantile myofibromatosis is well described in the head and neck, but cutaneous lesions rarely occur in the periorbit and orbit, where fast growth and bone damage can mimic malignant tumors. We describe a case of a solitary periorbital myofibroma in a newborn. Treatment consisted of partial excision of the tumor. Histologic and immunohistochemistry analyses provided the diagnosis of infantile myofibromatosis. The patient remains disease-free at 10 years of age, but with some visual impairment. Infantile myofibromatosis is an uncommon tumor with exceptional periorbital involvement. Differential diagnosis can be difficult when it is solely based on histologic assessment. Immunohistochemistry evaluation demonstrating cytoplasmic actin filaments in neoplastic spindle cells confirms the diagnosis. As soon as the diagnosis is made, chest and abdominal imaging must be performed to evaluate the overall prognosis and direct treatment. The treatment of choice is early conservative surgery to minimize functional and/or esthetic damage. Complete tumor excision is not always possible. Lengthy ophthalmologic monitoring is required to detect the onset of amblyopia.