[Diagnosis of complete transphyseal separation of the distal humerus].

Transphyseal separation of the distal humerus is a rare injury. Trauma, battered child syndrome and birth-related injuries are amongst the most common causes of the injury. This case report illustrates the importance of applying proper imaging and analysis to detect the injury.

Mutations in 3β-hydroxysteroid-δ8, δ7-isomerase paradoxically benefit epidermal permeability barrier homeostasis in mice.

Inherited or acquired blockade of distal steps in the cholesterol synthetic pathway results in ichthyosis, due to reduced cholesterol production and/or the accumulation of toxic metabolic precursors, while inhibition of epidermal cholesterol synthesis compromises epidermal permeability barrier homeostasis. We showed here that 3β-hydroxysteroid-δ8, δ7-isomerase-deficient mice (TD), an analog for CHILD syndrome in humans, exhibited not only lower basal transepidermal water loss rates, but also accelerated permeability barrier recovery despite the lower expression levels of mRNA for epidermal differentiation marker-related proteins and lipid synthetic enzymes. Moreover, TD mice displayed low skin surface pH, paralleled by increased expression levels of mRNA for sodium/hydrogen exchanger 1 (NHE1) and increased antimicrobial peptide expression, compared with wild-type (WT) mice, which may compensate for the decreased differentiation and lipid synthesis.

Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi.

Loss-of-function variants in the gene have been associated with epidermal nevi in humans with congenital hemidysplasia, ichthyosiform nevi, and limb defects (CHILD) syndrome and in companion animals. The gene codes for the NAD(P)-dependent steroid dehydrogenase-like protein, which is involved in cholesterol biosynthesis. In this study, a female Chihuahua cross with a clinical and histological phenotype consistent with progressive epidermal nevi is presented.

Novel gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome.

We report a case of a 1-year and 2-month-old girl with clinical features consistent with congenital hemidysplasia with ichthyosis and limb defects syndrome. Sterol analysis from skin flakes revealed increased levels of a mono 4-alpha methyl sterol also seen in plasma as well as the presence of 4-alpha-carboxy-4-methyl-cholest-8(9)-en-3beta-ol and several keto-sterols, which are usually below the limit of detection. This sterol pattern is consistent with abnormal function of the 4-alpha-methylsterol-4-demethylase complex.

Topical Cholesterol/Simvastatin Gel for the Treatment of CHILD Syndrome in an Adolescent.

Congenital ichthyoses are a heterogeneous group of genetic skin disorders characterized by defects in the critical barrier function of the skin. These life-long conditions present a significant therapeutic challenge in dermatology. One important example is Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects, or CHILD syndrome.

Vulnerable Child Syndrome and Newborn Screening Carrier Results for Cystic Fibrosis or Sickle Cell.

Objectives: To measure parental perceptions of child vulnerability, as a precursor to developing a population-scale mechanism to mitigate harm after newborn screening.

Study Design: Participants were parents of infants aged 2-5 months. Parental perceptions of child vulnerability were assessed with an adapted version of the Vulnerable Baby Scale.

Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report.

Background: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects also known as CHILD syndrome is an X-linked dominant, male lethal genodermatosis with a prevalence of 1 in 100,000 live births. Mutations in NSDHL gene located at Xq28 potentially impair the function of NAD(P) H steroid dehydrogenase-like protein and is responsible for its pathogenesis.

Case Presentation: The proband was a 9-month-old twin (T2) girl with a healthy twin sister (T1) of Sri Lankan origin born to non-consanguineous parents.

Cardiac anomalies in microtia patients at a tertiary pediatric care center.

Objective: Microtia is a congenital condition that is known to be associated with cardiac abnormalities. Current guidelines suggest performing an echocardiogram or other cardiac work-up in the presence of ear anomalies with dysmorphic features but not isolated microtia. We report on the prevalence and characteristics of cardiac anomalies among microtia patients at a tertiary pediatric center.

Characteristics and Hospital Costs of Spica Cast Treatment of Non-accidental-related Diaphyseal Femoral Fractures in Children Before Walking Age.

Background: Fractures are one of the most common presentations of child abuse second only to soft tissue damage, with ∼60% of fractures being femur, humerus or tibia fractures. Although studies have shown increased health care costs associated with nonaccidental trauma (NAT), there is little data regarding the cost of NAT-associated fractures compared with accidental trauma (AT) related fractures. The purpose of this study was to consider the economic burden of NAT related femoral fractures compared with AT femoral fractures.

A four-year-old Nigerian boy with battered child syndrome: implications for public health.

Battered child syndrome (BCS) is a form of physical abuse that is characterised by multiple injuries and potentially fatal outcome. Despite the high prevalence of physical abuse in developing countries, BCS is rarely reported. Hence, this report highlighted a four-year-old Nigerian boy who suffered multiple injuries (scalp haematoma, bruises, right clavicular fracture, and burns) from the paternal uncle's wife.

Pediatric Crohn Disease and Multisystem Inflammatory Syndrome in Children (MIS-C) and COVID-19 Treated With Infliximab.

Coronavirus disease 2019 (COVID-19) may lead to a severe inflammatory response referred to as a cytokine storm. We describe a case of severe COVID-19 infection in a recently diagnosed pediatric Crohn disease patient successfully treated with tumor necrosis factor-alpha (TNF-α) blockade. The patient presented with 5 days of fever, an erythematous maculopapular facial rash, and abdominal pain without respiratory symptoms.

A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders.

Background: Greenberg dysplasia is a rare, autosomal recessive, prenatal lethal bone dysplasia caused by biallelic pathogenic variants in the lamin B receptor (LBR) gene. Pathogenic variants in LBR are also associated with Pelger-Huët anomaly, an autosomal dominant benign abnormality of the nuclear shape and chromatin organization of blood granulocytes, and Pelger-Huët anomaly with variable skeletal anomalies, a mild, regressing to moderate-severe autosomal recessive condition. Conditions with abnormal sterol metabolism and different genetic basis have clinical and radiographic features similar to Greenberg dysplasia, for example X-linked dominant chondrodysplasia punctata, Conradi-Hünermann type, and CHILD syndrome, and other conditions with unknown genetic etiology display very similar features, for example, dappled diaphyseal dysplasia and Astley-Kendall dysplasia.

Retinal and visual function in infants with non-accidental trauma and retinal hemorrhages.

Purpose: To investigate retinal function and visual outcomes in infants with retinal hemorrhages due to non-accidental trauma (NAT).

Methods: This is a retrospective review of full-field or multifocal electroretinogram (ERG) recordings, visual acuity in log minimum angle of resolution (logMAR), clinical status, and neuroimaging. Multifocal ERGs from the central 40° were compared to corresponding fundus imaging.

The Implementation of a Pediatric Nonaccidental Trauma Evaluation Protocol: A Quality Improvement Analysis.

Background: Pediatric nonaccidental trauma (NAT) accounts for more than 1500 deaths annually and is a source of incalculable lifelong morbidity. Evidence-based NAT evaluation protocols are available; however, compliance studies are lacking. Here, we analyze the quality of implementation of a new NAT evaluation protocol.

CHILD syndrome: successful treatment of skin lesions with topical lovastatin and cholesterol lotion.

CHILD syndrome (Congenital Hemidysplasia, Ichthyosiform erythroderma, Limb Defects) is a rare X-linked dominant disease. The authors report a 2-month-old patient presenting with typical features of CHILD syndrome that was treated with a topical solution containing cholesterol and lovastatin, with complete clearance of her CHILD nevus. The changes in skin lipid metabolism that explain the CHILD ichthyosiform nevus and their correction through topical application of cholesterol and lovastatin are discussed.

Identification of NSDHL mutations associated with CHILD syndrome in oral verruciform xanthoma.

Objective: The aim of this study was to perform a systematic analysis of the nicotinamide adenine dinucleotide phosphate (NAD[P])-dependent steroid dehydrogenase-like (NSDHL) gene in cases of oral verruciform xanthoma (VX) and to test for the presence of mutations associated with congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome.

Study Design: DNA was extracted from archived paraffin-embedded tissue of oral VX and control cases. Polymerase chain reaction (PCR) was then used to screen exons 4 and 6 of the NSDHL gene for the presence of 4 known germline mutations associated with CHILD syndrome and 1 somatic mutation previously identified in VX lesions with no known association with CHILD syndrome.

Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation.

X-linked dominant chondrodysplasia punctata (Conradi-Hunermann-Happle syndrome, CDPX2) caused by mutations in the emopamil-binding protein (EBP) gene and congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome caused by mutation in the NAD(P)H steroid dehydrogenase-like (NSDHL) gene are rare, typically male lethal disorders. CDPX2 skin lesions are characterized by transient severe congenital ichthyosis following the lines of Blaschko, whereas in CHILD syndrome, the lesions show striking lateralization. Here, we report a male CDPX2 patient with postzygotic mosaicism of the EBP gene presenting with lateralized skin lesions with strict midline demarcation as seen in CHILD syndrome (although this diagnosis was ruled out based on analysis of NSDHL), but also partly distributed along Blaschko's lines as seen in CDPX2.

Whole-Body MRI in Children and Adolescents - S1 Guideline.

Whole-body MRI is an imaging method that uses advanced modern MRI equipment to provide high-resolution images of the entire body. The goal of these guidelines is to specify the indications for which whole-body MRI can be recommended in children and adolescents and to describe the necessary technical requirements. CITATION FORMAT: · Schaefer JF, Berthold LD, Hahn G et al.