Lipschütz ulcers due to SARS-CoV-2 infection: a neglected diagnosis in emergency room.

Background: Primary acute genital ulcers, or Lipschütz ulcers (LU), are nonsexually transmitted, painful, self-limiting, nonrecurrent vulvar ulcers with unclear pathogenesis, representing a challenging diagnosis in emergency setting. LU have recently been described in association with severe acute respiratory syndrome coronaVirus 2 (SARS-CoV-2) infection and vaccination. Objective: The aim of this study is to describe 2 cases of LU due to SARS-CoV-2 infection, highlighting the diagnostic process, differential diagnosis, disease course, and management options. Methods: We describe 2 young females (12 and 9 years old) who presented to pediatric emergency room with the sudden onset of well-demarcated, painful, vulvar ulcers with fibrinous necrotic center. Results: Both patients tested positive to SARS-CoV-2 nasal swab, and, at physical examination, no other lesions were found in other cutaneous or mucosal sites. Sexual abuse was excluded in both cases, as well as infectious and autoimmune diseases. Supportive analgesic therapy was administered, and complete remission of lesions was observed at follow-up visits without evidence of scarring. Limitations: The main limitation of this work is represented by the small number of cases described. Conclusion: Even though extremely rare, LU related to COVID-19 are an emerging entity to be considered in the diagnosis of acute genital ulcerations. Multidisciplinary diagnostic workup of genital ulcers must be established in order to exclude sexual child abuse, to ensure patient safety, and to avoid unnecessary treatment and familial anxiety.

KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype.

BACKGROUND: Neurodevelopmental disorders have a multifactorial etiology, since biological, genetic, psychosocial and environmental risk factors are involved. Recent studies have been linking neurodevelopmental disorders and intellectual disability with a variety of genes, some of which encoding neuronal cell-adhesion molecules. Among these, KIRREL3 is known to play a role in CNS development, and his variants have recently been related to intellectual disability, autism spectrum disorder, childhood apraxia of speech, cerebellar hypoplasia and mild dysmorphic features. CASE PRESENTATION: In this study, we describe a young Caucasian boy with mild intellectual disability, cerebellar anomalies (cerebellar hypoplasia and mega cisterna magna) and minor dysmorphic features associated to a novel KIRREL3 variant. CONCLUSIONS: Aim of the present case report is to expand the clinical spectrum of KIRREL3-related diseases towards a milder phenotype than what is already described in the literature. We speculate that the interaction between KIRREL3 and CASK might play a major role in promoting cognitive and cerebellar development, contributing to a variety of clinical manifestations.