Epidermolysis Bullosa With Pyloric Stenosis: A Novel Lethal Variant.

Epidermolysis bullosa (EB) is a rare and genetically inherited skin fragility disorder causing mucocutaneous blistering, erosion, and ulceration as a result of even minor trauma. Junctional EB (JEB), which is a type of EB, is inherited via an autosomal recessive pattern and characterized by blisters that appear in the lamina lucida of the basement membrane zone, which is the junction between the epidermis and dermis. The integrin genes (ITGA6, ITGB4) are responsible for the majority of JEB mutations. We present a case of lethal JEB and pyloric atresia with aplasia cutis congenita (ACC), with a homozygous pathogenic variant identified in the ITGA6 gene, c.1688dup. The diagnosis was made by whole exome sequencing (WES) postnatally after consecutive third pregnancy loss in the last trimester in a consanguineous couple. As these cases have a poor prognosis, genetic counseling, invasive prenatal testing, and preimplantation genetic diagnosis (PGD) have an evolving and indispensable role in the management of future pregnancies.

De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome.

Pfeiffer syndrome (PS) is an autosomal dominant disorder with three subtypes stemming from heterozygous mutations in the fibroblast growth factors FGFR1 and FGFR2. The subtypes overlap with heterogeneous clinical manifestations and variable prognosis dependent on neurological and respiratory compromise that impact short- and long-term outcomes and survival. We present a male, term infant with type II PS that was diagnostically suspected antenatally based on three-dimensional ultrasonographic findings that were confirmed postnatally by craniofacial tomography and magnetic resonance imaging. A new generation sequencing panel identified a unique de novo FGFR2, c.335 A > G p. Tyr112Cys variant, the first of its kind, and features that closely aligned with subtype II PS. Initial molecular results categorized the mutation as nonpathogenic, but it was later reclassified as pathogenic. Antenatal, multidisciplinary parental counseling about the tentative diagnosis and prognosis facilitated postnatal decisions that culminated in an informed choice for palliative care and early demise.

Hemostatic Techniques for Laparoscopic Management of Cornual Pregnancy: Double-Impact Devascularization Technique.

Cornual pregnancy is a rare form of ectopic pregnancy, accounting for up to 2% to 4% of all ectopic pregnancies, with a mortality range of 2.0% to 2.5%. Hemorrhage is a key concern in the management of such pregnancies. Traditional treatment options include a conservative approach, failing which patients are offered surgical options such as cornual resection at laparotomy, which carries a high risk of hysterectomy. In recent years newer laparoscopic cornual resection or cornuotomy techniques have been used successfully to achieve better outcomes with fewer complications. We present the double-impact devascularization (DID) technique for laparoscopic management of cornual ectopic pregnancies. This technique permits hemostatic control by compression effect, which in turn allows reduction in procedure-related patient morbidity and mortality. We also provide an overview of other reported methods of hemostatic control used in similar laparoscopic procedures. DID appears to be a useful, safe, minimally invasive technique that can be used in both laparoscopic and open surgical procedures.