Deodorant Spray-Induced Cold Burns: A Case of Child Abuse.

Munchausen syndrome by proxy is extremely difficult to diagnose. A case is presented of a 17-month-old girl who repeatedly sustained cold burns caused by a spray deodorant and inflicted by her mother. A comprehensive medical investigation, including blood assessments, skin biopsies and imaging were inconclusive.

Novel heterozygous mutation in a juvenile systemic lupus erythematosus patient with severe cutaneous involvement treated successfully with Jak-inhibitors: a case report.

Juvenile systemic lupus erythematosus (jSLE) is a complex inflammatory autoimmune disorder. In the last decades, genetic factors and activation pathways have been increasingly studied to understand their potential pathogenetic role better. Genetic and transcriptional abnormalities directly involved in the type I interferon (IFN) signaling cascade have been identified through family-based and genome-wide association studies.

A 52-week multicenter retrospective real-world study on effectiveness and safety of dupilumab in children with atopic dermatitis aged from 6 to 11 years.

Dupilumab has been shown to be a safe and effective drug for the treatment of atopic dermatitis (AD) in children from 6 months to 11 years in randomized clinical trials. Aim: The aim of this real-life study was to determine the effectiveness in disease control and safety of dupilumab at W52 in moderate-to-severe AD children aged 6-11 years. All data were collected from 36 Italian dermatological or paediatric referral centres.

A novel mutation in the SCN9A gene associated with congenital insensitivity to pain, anhidrosis, and mild cognitive impairment.

Congenital insensitivity to pain (CIP) is a rare phenotype characterized by the inability to perceive pain stimuli with subsequent self-injuries, whereas CIP associated with anhidrosis (CIPA) is an overlapping phenotype mainly characterized by insensitivity to noxious stimuli and anhidrosis. CIP is primarily associated with pathogenetic variants in the SCN9A gene while CIPA is associated with pathogenetic variants in NGF and NRTK genes. However, in recent years, a significant overlap between these two disorders has been observed highlighting the presence of anhidrosis in SCN9A variants.

Pediatric vulvar lichen sclerosus: Does it resolve or does it persist after menarche?

Background And Objectives: Although data regarding the rates of remission and progression of the disease are still scarce, it is generally now acknowledged that pediatric vulvar lichen sclerosus (pVLS) can persist beyond puberty. Recent studies reveal that this condition may persist in as many as 75% of cases. The present study aims to answer the following query: how does pVLS evolve after menarche?

Methods: This observational retrospective study conducted on premenarchal girls diagnosed with pVLS in our institution between 1990 and 2011 describes 31 patients who returned for multidisciplinary clinical evaluation following menarche.

Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia.

X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic disorder characte-rised by abnormal development of the skin and its appendages, such as hair and sweat glands, the teeth, and mucous glands of the airways, resulting in serious, sometimes life-threatening complications like hyperthermia or recurrent respiratory infections. It is caused by pathogenic variants of the ectodysplasin A gene (). Most affected males are hemizygous for null mutations that lead to the absence or inactivity of the signalling protein ectodysplasin A1 (EDA1) and, thus, to the full-blown phenotype with inability to perspire and few if any teeth.

Childhood Pemphigus Vulgaris during COVID-19 Outbreak Successfully Treated with Prednisone and Azathioprine: A Case Report and Literature Review.

Introduction: pemphigus vulgaris is a rare autoimmune blistering disease that involves the skin and mucous membranes and rarely occurs in pediatric age.

Methods: we present a case of childhood pemphigus in a 9-year-old patient from Burkina Faso, which initially manifested with erosive lesions symmetrically distributed in the oral cavity. After a few months, we also observed hyperchromic lesions of the back.

Type D lymphomatoid papulosis with pityriasis lichenoides et varioliformis acuta-like features in a child with parvovirus infection: a controversial diagnosis in the spectrum of lymphoid proliferations: case report and literature review.

Background: Lymphomatoid papulosis (LyP) is a rare condition in pediatrics; LyP histological type D has been reported in only 7 children. The differential diagnosis of LyP in the spectrum of lymphoid proliferation remains controversial.

Case Presentation: A 6-year-old boy presented to Emergency Department with a 3-week history of an erythematous papulo-vesicular itchy eruption over the submandibular regions, trunk and extremities.

Rare and common manifestations of COVID-19 in children.

Introduction: It has been almost 2 years since the first reports on cutaneous manifestations of COVID-19. Those reported in children are different and include macular, papular, lichenoid, vesicular, urticarial, and vascular morphologies, among others. The prognosis of isolated cutaneous involvement in COVID-19 in children is usually self-limiting but the extreme variety of clinical presentations complicates the clinical approach.

Cord Blood Platelet Gel as a Treatment of Occipital Pressure Injuries in Newborns: Report of Two Cases.

Background: A Pressure Ulcer (PU) is a severe event and could create discomfort to newborns. In newborns, one of mostly stricken location by PU is occipital area. Recent studies have highlighted that Cord Blood Platelet Gel (CBPG) might be a better alternative compared to traditional treatment.

Autoantibody Profile of a Cohort of 54 Italian Patients with Linear IgA Bullous Dermatosis: LAD-1 Denoted as a Major Auto-antigen of the Lamina Lucida Subtype.

Linear IgA bullous dermatosis (LABD) is characterized by presence of multiple IgA autoantibodies, and a comparatively lesser number of IgG antibodies, directed against different hemidesmosomal antigens. The main autoantigens are LAD-1, LABD-97, BP180 and BP230, type VII collagen and laminin 332. We retrospectively studied the serology of 54 Italian patients with LABD using enzyme-linked immunosorbent assay (ELISA), immunoblotting assay, and indirect immunofluorescence on monkey oesophagus and salt-split skin.

Residual Lesions After Pharmacological and Dye-Laser Treatment of Infantile Hemangiomas: Critical Review of 432 Cases.

Background And Objectives: Infantile hemangiomas (IHs) are the most common benign tumors in infanthood. Although they are often self-limiting, management of IHs is still controversial because residual lesions may persist in some cases. The aim of this study is to report our experience with patients affected with IH and investigate the frequency of residual lesions in treated versus untreated patients.

Neonatal Systemic Lupus Erythematosus Syndrome: a Comprehensive Review.

Neonatal lupus erythematosus is an uncommon syndrome, which is caused by transplacental passage of maternal autoantibodies to Sjögren's syndrome A or B autoantigens. The clinical presentation includes distinctive cutaneous lesions resembling those seen in systemic lupus erythematosus, hepatobiliary disease, and cytopenias, which disappear with the clearance of maternal autoantibodies. The most severe presentation is a total atrioventricular heart block, which begins during the second trimester of gestation and is irreversible.

Burden of Infantile Hemangioma on Family: An International Observational Cross-Sectional Study.

Background/objectives: Infantile hemangioma (IH) is the most frequent benign tumor of infancy resulting from vascular proliferation. Data regarding the burden on families of children with IHs are limited. This study aimed to characterize IHs and provide a comprehensive evaluation of the burden of IHs on parents of children requiring systemic treatment in the United States and Europe.

Abdominal cystic lymphangioma in a term newborn: A case report and update of new treatments.

Introduction: Lymphatic malformations are benign anomalies derived from the abnormal development of lymphatic channels. Usually asymptomatic, they can cause compression on adjacent structures or present acute complications (bleeding or infection). Small asymptomatic lesions can be conservatively managed since the possibility of spontaneous regressions is described, while symptomatic lesions require active management.

Cardiovascular Profile of Propranolol after Multiple Dosing in Infantile Hemangioma.

Propranolol is becoming the treatment of choice for complicated infantile hemangioma. We report here data on peripheral blood flow, O2-saturation, electrocardiographic PR-interval, left ventricular function, blood pressure and heart rate that were assessed before and during treatment for ≥4 weeks with propranolol 2 mg/kg of body weight daily in 67 infants <12 months of age in normal sinus rhythm and with structurally normal hearts. Management with propranolol was well tolerated in all and did not modify peripheral blood flow, O2-saturation, electrocardiographic PR-interval and left ventricular fractional shortening or ejection fraction.