Robotic Approach to Ureteral Endometriosis: Surgical Features and Perioperative Outcomes

Introduction: Surgical treatment of ureteral endometriosis is necessary to relieve urinary symptoms of obstruction and to preserve renal function. Which surgical approach to ureteral endometriosis should be considered the most appropriate is debated, due to the lack of scientific evidence. The aim of the present study is to assess the feasibility and to describe the perioperative outcomes of minimally invasive treatment of deep ureteral endometriosis using robotic assistance, highlighting the technical benefits and the limits of this approach. Method: A case-series including 31 consecutive patients affected by high-stage endometriosis including ureteral endometriosis using robotic assistance in our Department between November 2011 and September 2017. Results: All procedures were successfully completed by robotic technique, resulting in full excision of the parametrial nodules involving the ureter. Mean operating time was 184.8 ± 81min. Mean hospital stay was 4.02 ± 3 days. Perioperative complications occurred in five patients and 4 out of 5 involved the urinary tract. Conclusions: Robotic surgery for deep infiltrating endometriosis of the ureter was feasible and allowed complete resection of ureteral nodules in all cases. No intraoperative complications arose, but a non-negligible rate of urinary tract complications was detected. This calls for a careful assessment of the benefits and specific risks associated with the use of robotic surgery for the treatment of deep infiltrating endometriosis of the ureter

Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela

Hypohidrotic/anhidrotic ectodermal dysplasia (HED) is a rare genetic disorder affecting ectodermal tissues mainly including hair, teeth, sweat glands, skin and nails. It exhibits X-linked (XLHED) as well as autosomal dominant or recessive modes of inheritance. In the first study conducted from Venezuela, we analyzed two XLHED cases exhibiting classical clinical symptoms and identified a novel hemizygous EDA deletion (c.111delG) in one and a novel missense likely pathogenic variant (p.Gly192Glu) in the other. The current study adds to the growing repertoire of disease-causing EDA mutations with important implications for genetic screening in the affected families

A rare mutation of retinoic acid receptor-β associated with lethal neonatal Matthew-Wood syndrome

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Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency

Abstract Background Lipoid congenital adrenal hyperplasia (CAH) (OMIM n. 201710) is the most severe form of congenital adrenal hyperplasia. It is characterized by severe adrenal and gonadal steroidogenesis impairment due to a defect in the conversion of cholesterol to pregnenolone. Affected infants experience salt loss, but glucocorticoid and mineralocorticoid replacement therapy enables long-term survival. Classic lipoid congenital adrenal hyperplasia is relatively common in Japan and Korea but extremely rare in Caucasian populations. Case presentation A female infant of Italian origin came to our attention in late infancy with a clinical picture of acute adrenal insufficiency. The study of the STAR gene revealed two genomic variants c.562C > T and c.577C > T in compound heterozygosity. At the protein level, the two mutations determine the p.Arg188Cys variant (rs104894090) and the p.Arg193Ter variant (rs387907235), respectively. Sanger sequencing was used to confirm the identified variants and to perform familial study. The mother carried the p.Arg188Cys variant, while the father carried the p.Arg193Ter variant. Conclusion To our knowledge this is the second case of classic lipoid congenital adrenal hyperplasia reported in the Italian population. STAR mutations resulting in lipoid congenital adrenal hyperplasia should be considered all over the world in the differential diagnosis of newborn babies and infants with primary adrenal insufficiency

Angioma serpiginosum: a case report and review of the literature

Abstract Background Angioma serpiginosum is a rare vascular anomaly whose pathogenesis is still unknown. It is characterized by the onset of vascular reddish macules and papules during childhood, lesions are usually monolateral with a linear serpiginous pattern. It is rarely associated with extracutaneous findings. This entity has not yet been included in the classification of the International Society for the Study of Vascular Anomalies. Case presentation We describe the first Italian report of angioma serpiginosum with a congenital symmetrical presentation. The patient had a further extension of macules during puberty involving both of the soles. No extracutaneous manifestations were present. Diagnosis was confirmed with dermoscopy and light microscopy that revealed the typical clusters of dilated, thickened and PAS+ capillaries in the upper dermis. Moreover, Immunohistochemistry showed positive WT-1 staining. Genetic analysis with next generation sequencing did not detected any mutation. Conclusions Our patient presented a peculiar symmetrical and planar extension with a serpiginous linear pattern. The proliferative nature of this condition has been widely discussed in literature. In our case immunohistochemistry was positive for Wilms tumor-1, a new endothelial marker expressed during angiogenesis in reparative processes and endothelial tumors. Clinical evolution, histological and immunohistochemical findings suggest that angioma serpiginosum should be considered as a vascular proliferation. For these reasons we think it should be included in the international classification as a tumor

A New Case of Autosomal-Dominant <i>POLR3B</i>-Related Disorder: Widening Genotypic and Phenotypic <i>Spectrum</i>

POLR3B encodes the RPC2 subunit of RNA polymerase III. Pathogenic variants are associated with biallelic hypomyelinating leukodystrophy belonging to the POLR-related disorders. Recently, the association with dominant demyelinating neuropathy, classified as Charcot–Marie–Tooth syndrome type 1I (CMT1I), has been reported as well. Here we report on an additional patient presenting with developmental delay and generalized epilepsy, followed by the onset of mild pyramidal and cerebellar signs, vertical gaze palsy and subclinical demyelinating polyneuropathy. A new heterozygous de novo missense variant, c.1297C > G, p.Arg433Gly, in POLR3B was disclosed via trio-exome sequencing. In silico analysis confirms the hypothesis on the variant pathogenicity. Our research broadens both the genotypic and phenotypic spectrum of the autosomal-dominant POLR3B-related condition