Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency

Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein with tyrosine-kinase signaling activity, involved in many cellular functions including cell growth and differentiation. Germ line loss-of-function mutations in EGFR lead to a severe neonatal skin disorder (Online Mendelian Inheritance in Man #131550). We report 18 premature Roma children from 16 families with birthweights ranging 440–1470 g and multisystem diseases due to the homozygous mutation c.1283G˃A (p.Gly428Asp) in EGFR. They presented with thin, translucent, fragile skin (14/15), skin desquamation (10/17), ichthyosis (9/17), recurrent skin infections and sepsis (9/12), nephromegaly (10/16) and congenital heart defects (7/17). Their prognosis was poor, and all died before the age of 6 months except one 13-year-old boy with a severe skin disorder, dentinogenesis imperfecta, Fanconi-like syndrome and secondary hyperaldosteronism. Management of ion and water imbalances and extremely demanding skin care may improve the unfavorable outcome of such patients.     

Bleeding from gastrointestinal angioectasias is not related to bleeding disorders - a case control study

Background  

Angioectasias in the gastrointestinal tract can be found in up to 3% of the population. They are typically asymptomatic but may sometimes result in severe bleeding. The reasons for why some patients bleed from their angioectasias are not fully understood but it has been reported that it may be explained by an acquired von Willebrand syndrome (AVWS). This condition has similar laboratory findings to congenital von Willebrand disease with selective loss of large von Willebrand multimers. The aim of this study was to find out if AVWS or any other bleeding disorder was more common in patients with bleeding from angioectasias than in a control group.     

Fecal incontinence after transanal endoscopic microsurgery

Purpose

Transanal endoscopic microsurgery (TEM) procedure could potentially influence the development of fecal incontinence later in life. The aim of our study was to assess long-term functional outcomes after TEM and to determine possible variables related to incontinence.

Methods

Patients, enrolled in a prospectively collected TEM operation database, were interviewed using a postal questionnaire. The questionnaire consisted of EuroQol (EQ)-5D-5L quality of life questionnaire, Wexner fecal incontinence grading scale, and additional questions about other perianal operations and obstetric history for women. We divided patients into two groups: no or minor fecal incontinence (Wexner score of 2 and less) and non-minor incontinence (Wexner score of 3 or more).

Results

One hundred thirty-two patients were included in the study. Patients’ median follow-up time was 96 (12–168) months from their operation. Thirty-eight patients (28.8%) reported Wexner score of 3 or more, and they reported significantly worse quality of life in all tested life spheres. They were older at the time of the operation (63 (18–82) vs. 68 (50–89) years; p?=?0.004), underwent longer operations (50 (10–140) vs. 60 (15–210) min; p?=?0.017), and more often were operated for malignant lesions (17 (18.3%) vs. 14 (36.8%); p?=?0.040). Older age at the time of operation was an independent risk factor in multivariate model (OR 1.057, 95% CI 1.010–1.106; p?=?0.016).

Conclusions

Fecal incontinence after TEM is more common than thought previously, resulting in significantly impaired quality of life. Older age at the time of operation was an independent risk factor for developing significant fecal incontinence.