Manifestations In Pediatric Patients Research Articles

#332 Dermatological manifestations in pediatric CKD patients

Abstract Background and Aims Chronic kidney disease (CKD), regardless of its cause, may be accompanied by various skin lesions. The most common symptom in children suffering from CKD is pruritus however other signs that may be seen are xerosis, skin hyperpigmentation, ecchymoses, acquired perforating dermatoses, nail lesions, calcinosis cutis, as well as eczematous lesions at the site of an arteriovenous fistula and skin infections. Data on different skin lesions in children with CKD is very limited; only few reports have been published discussing xerosis in pediatric patients and most studies were conducted on a small number of patients who needed renal replacement therapy . This study aimed primarily to screen the different dermatological manifestations in pediatric patients with CKD, in addition to studying the relationship of dermatological manifestations with the CKD stage, types of dialysis, various clinical and metabolic parameters. Method This was a cross sectional study, that was conducted at Pediatric Dialysis and Nephrology unit, Children's Hospital, Faculty of Medicine, Ain Shams University Hospital, Cairo, Egypt, during the period from February 2023 to August 2023, where 70 patients were enrolled in our study being divided into two groups: group 1 including CKD patients stages (2-4) and group 2 including CKD patients with stage 5 on regular hemodialysis. Detailed dermatological & nail examination were conducted. Xerosis severity was assessed using a four-point xerosis assessment scale (0, normal skin, without any xerosis; 1, mild xerosis; 2, moderately dry skin with minimal flaking; 3, severe xerosis, heavy scaling visible), whereas pruritus was assessed using a visual analogue scale (VAS) on a scale of 1 (no itch) to 10 (worst possible itch). Laboratory data were withdrawn at the time of examination to correlate with different dermatological manifestation. Results In our study, xerosis was the most frequent dermatological manifestation (78.6%) following it pruritus (62.9%) then pallor (35.7%), hyperpigmentation (20%), hypertrichosis (10 %), nail and hair abnormalities (8.5%) & post inflammatory hyperpigmentation (4.3%). The prevalence of xerosis was not affected by clinico-demographic data, CKD duration & stage, type and duration of dialysis, the only significant relation was between efficacy of dialysis (Kt/V) and incidence of xerosis, where the higher dialysis efficacy rates were associated with low incidence rates of xerosis, in which effective hemodialysis contributes to better removal of uremic toxins, & hence decrease the xerosis. Leukocytosis was noticed in xerotic & pruritic patients, where xerosis & impaired skin barrier in children with CKD pose a risk for different cutaneous infections & inflammation, and hence pruritis. Conclusion Xerosis and pruritis are not uncommon dermatological manifestations among pediatric patients with chronic kidney disease, meanwhile the age of the patients and the underlying CKD etiology had no direct effect on skin changes. The most determinant factory affecting the xerosis was the hemodialysis efficacy, where higher efficacy was associated with less xerosis, meanwhile leukocytosis was associated with higher xerosis and pruritis. Further studies are needed to detect various skin manifestations in CKD patients with different CKD stages and correlate it with the used dialysis modalities.

The clinical relevance of different antiphospholipid antibody profiles in pediatric rheumatology patients

BackgroundThe clinical relevance of different antiphospholipid antibody (aPL) profiles, including low level anticardiolipin (aCL) and anti-β2-glycoprotein-I (aβ2GPI) antibodies, is ill-defined in the pediatric population. Our purpose is to describe the demographic, clinical, and laboratory characteristics of aPL positive pediatric patients based on different aPL profiles.FindingsIn this single center retrospective cohort study, based on the screening of our pediatric (age ≤ 18) rheumatology electronic medical records (2016–2022), we identified patients who had at least one “positive” aPL (lupus anticoagulant [LA], aCL IgG/M, or aβ2GPI IgG/M) result. Patients were grouped into high- (LA positive and/or aCL/aβ2GPI IgG/M > 40U [ELISA]) and low-risk (LA negative and aCL/aβ2GPI IgG/M 20-39U) aPL profiles; those with persistently positive aPL were descriptively analyzed for demographic and clinical characteristics. Of 57 included patients, 34 (59%) had initial high- and 23 (40%) had initial low-risk profiles. Based on subsequent aPL results available in 42/57 (74%) patients, 25/27 (93%) in the high-, and 7/15 (47%) in the low-risk groups remained still positive. Of these 32 patients with persistently positive aPL, moderate-to-large vessel or microvascular thrombosis occurred in nine (28%) patients with high-risk and in none with low-risk aPL profiles; non-thrombotic aPL-related manifestations were reported in 15 (47%) patients with persistent aPL positivity.ConclusionAn initial high-risk aPL profile was persistent in approximately 90% of our cohort, a third of whom had thrombosis, and half had non-thrombotic aPL manifestations. Our results underscore the need for a large-scale effort to better characterize aPL-related manifestations in pediatric patients with persistent high-risk aPL-profiles.

Dermatologic manifestations in pediatric patients with inflammatory bowel disease.

Despite studies of dermatologic manifestations in adults with inflammatory bowel disease (IBD), little is known about the prevalence of IBD-associated skin lesions and their correlation with IBD severity in children. We aimed to address these knowledge gaps in our single-center cohort of children with IBD. Retrospective chart review of 528 children and adolescents (≤18 years old) with IBD and seen at Mayo Clinic (Rochester, MN) between 1999 and 2017 was conducted. The Chi-Square/Fischer's exact test (with p ≤ .05 to signify statistical significance) was applied to compare categorical outcomes between Crohn's disease (CD) and ulcerative colitis (UC) patients. In total, 425 IBD patients (64.9% CD, 53% males) and ≥1 dermatologic diagnosis were included. Presence of ≥1 cutaneous infection was recorded in 42.8% of participants. Acne was the most common non-infectious dermatologic condition (30.8%), followed by eczema (15.8%) and perianal skin tags (14.6%). Angular cheilitis (p = .024), keratosis pilaris (KP, p = .003), and perianal skin complications (i.e., skin tags, fistula, and abscesses; all p < .001) were more frequently diagnosed among children with CD, while fungal skin infections (p = .017) were more frequently diagnosed in UC patients. Severity of IBD correlated with higher prevalence of perianal fistula (p = .003), perianal abscess (p = .041), psoriasis (p < .001), and pyoderma gangrenosum (PG, p = .003). Both IBD-specific and IBD-nonspecific dermatologic conditions are very prevalent in childhood IBD, the most common being infectious. Children with CD are more likely to experience angular cheilitis, KP, and perianal skin findings than those with UC. Perianal disease, psoriasis, and PGare associated with more severe IBD.

Urological Manifestations in Pediatric Patients with Allergic Disorders: Associations or Manifestations.

Urological Manifestations in Pediatric Patients with Allergic Disorders: Associations or Manifestations.

1.18 Neuropsychiatric Manifestations in Pediatric Patients With Pediatric Systemic LUPUS Erythematosus

1.18 Neuropsychiatric Manifestations in Pediatric Patients With Pediatric Systemic LUPUS Erythematosus

Epididymitis, orchitis, and epididymo-orchitis associated with SARS-CoV-2 infection in pediatric patients: A systematic review

IntroductionEpididymitis, orchitis, and epididymo-orchitis (EO) are common disorders in pediatric patients which may be caused by infection, trauma, or inflammation. SARS-CoV-2 associated EO has been previously described, particularly in adults. However, no systematic reviews of these manifestations in pediatric patients yet exist. We present a systematic literature review of epididymitis, orchitis, and EO associated with SARS-CoV-2 in pediatric patients to shed light on these relatively rare, yet potentially severe, conditions to understand presentation, course of illness, management options, and outcomes.Materials and MethodsFollowing the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, a systematic review was performed using specified key terms to search PubMed, Cumulative Index to Nursing and Allied Health Literature, Web of Science, and Embase. Articles were independently screened by two reviewers. Manuscripts with detailed descriptions of SARS-CoV-2 associated epididymitis, orchitis, or EO in pediatric patients were included. Exclusion criteria included: no clear diagnosis of the target diseases and no detailed clinical course described. Quality and bias were assessed using the Joanna Briggs Institute Critical Appraisal Checklist for Case Reports.Results60 records were initially identified, with 6 case reports included in the systematic review. All 6 patients included presented with fever and genitourinary symptoms. Four patients were also diagnosed with multisystem inflammatory syndrome in children (MIS-C). One patient underwent surgical exploration for presumed testicular torsion, though intraoperatively there was no evidence of torsion. All patients recovered without documented long-term sequelae.DiscussionWhile observational studies are prone to bias, this systematic review suggests that epididymitis, orchitis, and EO are significant manifestations of SARS-CoV-2 that may mimic urologic emergencies (i.e., testicular torsion). Providers should suspect these conditions in pediatric COVID-19 patients with scrotal symptoms, particularly with associated MIS-C. The long-term genitourinary sequelae of SARS-CoV-2 should be investigated, including the effects on pediatric patients undergoing reproductive development.

Neurological manifestations in pediatric patients with COVID-19: A case series

In this case series of two male and one female patient with an age range of 2-12 years, only one patient had a history of neurological disorder and underwent ventriculoperitoneal shunt for a medulloblastoma, which describes coronavirus disease-associated neurological manifestations in pediatric patients, among which seizures and sensory disturbances are noticeable. In order to describe the various clinical and neurological manifestations that appeared earlier or developed over the course of illness, a series of cases of pediatric patients with coronavirus disease was documented.

Assessment of oral manifestations in pediatric patients with celiac disease in relation to marsh types

To investigate the presence of molar-incisor hypoplasia and recurrent aphthous ulcers, the level of caries experience, and oral hygiene status, and to measure salivary flow rate, salivary buffer capacity, and salivary cariogenic microflora with Marsh types. A single-blind, prospective clinical study with 62 pediatric patients diagnosed with celiac disease with 64 controls. Clinical identification of molar-incisor hypomineralization (MIH) was followed according to the European Academy of Pediatric Dentistry criteria. DMFS and dfs index were used for the caries experience of each child. The clinical diagnosis of RAU was present or not. Oral hygiene was surveyed by recording the OHI-S and the CRT® Bacteria and Buffer Test was used to examine the cariogenic microflora of each child. The prevalence of MIH was 61% and the number of recurrent aphthous ulcers were significantly higher in children with celiac disease. There was no statistically significant difference in the CD group, when DMFS, dfs, and MIH parameters were investigated according to dietary compliance. Higher dietary compliance resulted in better oral hygiene status. There was an inverse relationship between the duration of celiac diagnosis and the presence of MIH. A positive relation was found between the duration of the disease and the severity of MIH. In addition to the higher S. mutans counts, the salivary flow rate was very low in children with celiac disease, indicating a positive correlation between poor dietary compliance and poorer oral hygiene. In children, enamel defects and recurrent mucosal lesions may be a sign of celiac disease. Higher numbers of dental caries in permanent teeth of children with celiac disease may be related to Marsh 2 type. The pediatricians and/or pediatric gastroenterologists should refer the chin with celiac disease to the pediatric dentist for the accurate treatment of intraoral manifestations of the disease itself.

Graft-versus-host disease and other cutaneous manifestations in pediatric patients transplanted for Fanconi anemia.

The aim of this study was to elaborate a specific protocol for the assessment and early identification of skin lesions in pediatric patients with Fanconi anemia undergoing hematopoietic stem cell transplantation. This is a longitudinal, retrospective, and descriptive study. The medical records of 136 pediatric patients with Fanconi anemia who underwent hematopoietic stem cell transplantation between 2008 and 2018 at the Clinical Hospital of the Federal University of Paraná were reviewed. A specific protocol was created for data collection, which included age, sex, skin color, age at diagnosis of Fanconi anemia, transplantation data, family history of consanguinity, and pre- and post-transplant complications. In addition, the data included the presence of graft-versus-host disease of the skin and other organs, its classification, type of lesion, location, and also skin lesions not related to graft-versus-host disease. Among the skin manifestations in pre-transplant period, café-au-lait spots stood out (32.4%). At least one organ was affected by graft-versus-host disease in 55.1% of patients; the most common involvement being the mouth, followed by the skin. Rash and erythema were the most frequently observed cutaneous manifestations of graft-versus-host disease. A high prevalence of cutaneous manifestations of the disease was observed, as well as cutaneous manifestations of graft-versus-host disease. The protocol developed gathers relevant and standardized information for the follow-up of patients with Fanconi anemia undergoing hematopoietic stem cell transplantation, ensuring greater reliability of the information, and its implementation will allow the prospective evaluation of patients.

Neurological and Neuroradiological Patterns with COVID-19 Infection in Children: A Single Institutional Study.

Background Varied neurological manifestations in pediatric patients with coronavirus disease 2019 (COVID-19) have been increasingly reported from all across the world in the scientific literature. Objective We aimed to evaluate pediatric cases with neurological symptoms and neuroimaging findings with COVID-19 infection in our hospital. Materials and Methods Children from 0 to 12 years with laboratory evidence of COVID-19 infection and acute neurological manifestations within 3 months, who have undergone magnetic resonance imaging (MRI) were included in the study. We categorized them based on neurological findings into four groups: acute encephalitis syndrome (AES), acute flaccid paralysis (AFP), cerebrovascular event/stroke, and miscellaneous consisting of acute seizures without encephalopathy. Results A total of 19 children with neurological manifestations related to COVID-19 infection were included in the study. AES was the most common neurological syndrome seen in 47.36%, followed by AFP in 26.31% and cardiovascular event/stroke in 21.05%. Seizure was the most common neurological symptoms in 62.15%, followed by encephalopathy in 42.10% and AFP in 26.31%. On neuroimaging, pattern observed were immune-mediated cauda equina nerve roots enhancement in 26.31% or acute disseminated encephalitis in 5.26%, small acute infarcts, hippocampal, and bilateral thalamic signal changes seen in 21.05% each, microhemorrhages and leukoencephalopathy in 15.78%, and coinfection in 5.26%. Conclusion In our study, seizures and encephalopathy were the most common neurological symptoms with COVID-19 infection. Postinfectious immune-mediated cauda equina nerve root enhancement or acute demyelinating encephalomyelitis-like brain imaging, followed by small acute infarcts and hippocampal/thalamic signal changes were most common imaging patterns. We found overlapping neurological and MRI patterns in many children, suggesting that various pathophysiological mechanisms act individually or synergistically.

Pattern of ophthalmological and orthopaedic manifestations in pediatric patients of torticollis presenting to the tertiary care hospital of north India

Introduction: Deformity of the neck and limited motion are commonly seen in pediatric orthopedics. The problem may be simply due to an intrinsic cervical issue or may be the manifestation of other underlying problems. To make a diagnosis of the nature and cause of neck deformity in the newborn is very important. Congenital torticollis is a condition that results in the deviation of a child’s head to one side, with accompanying limitation in the range of motion of the neck. Aims and objective: Objective: To investigate the clinical features and outcome of congenital muscular torticollis (CMT) with passive neck motion limitation according to whether the finding on ultrasonography (US) is normal or abnormal. Material and methods: A total of 32 patients with Congenital Muscular Torticollis (CMT) who met eligibility criteria were included: age at presentation 6 month to 1 year, limitation of passive neck rotation or lateral flexion were included in this study. Patients underwent physiotherapy and were followed-up monthly. The clinical research with torticollis at the Variety Center for Craniofacial Rehabilitation was done from 2019 to 2021 retrospectively. Clinical records, standardized medical photographs, and cephalometric radiographs of the affected patients were examined.

Acute and sub-acute ocular manifestations in pediatric patients with COVID-19: A systematic review.

The coronavirus disease 2019 (COVID-19) pandemic has been the most challenging health problem in the last 2 years. Post-COVID-19 multisystem inflammatory syndrome of children (MIS-C) is a severe post-COVID-19 complication in pediatric patients. Ocular manifestations may be the first presentation of MIS-C, wherein prompt treatment may improve outcomes. In this systematic review, we aimed to summarize the acute and sub-acute ocular manifestations in pediatric patients with laboratory-confirmed COVID-19. We included all online primary studies, with no language restriction and published between January 1, 2019 and November 18, 2020, reporting any acute or sub-acute ocular manifestations in children with laboratory-confirmed COVID-19. PubMed/MEDLINE was searched using the following MeSH and Emtree terms: "eye," "ophthalmologic," "ocular," "vision," "conjunctivitis," "severe acute respiratory syndrome coronavirus 2," "SARS-CoV-2," "corona," "2019-nCoV," "COVID19," and "COVID." The eligibility and quality of the selected records were assessed by two independent reviewers as per the Cochrane Handbook for Systematic Review. A total of 1,192 records were identified electronically. Seven papers were extracted from the reference lists of the eligible records. Thirty-six papers met the inclusion criteria and were categorized into two subgroups according to acute or sub-acute presentation of ocular manifestations. Among 463 pediatric patients with COVID-19, 72 (15.5%) had acute ocular manifestations. There was one patient with central retinal vein occlusion and another with photophobia and diplopia associated with meningoencephalitis. Among 895 pediatric patients with post-COVID-19 MIS-C, 469 (52.4%) had ocular manifestations, which only included non-purulent conjunctivitis. Ocular manifestations have been reported in less than one-fifth of pediatric patients with acute COVID-19. Furthermore, conjunctivitis was the only ocular manifestation reported in half of the patients with MIS-C, and it may be missed easily due to its non-purulent nature. During the COVID-19 pandemic, pediatricians and health workers must remain vigilant for early detection of signs of this potentially fatal post-COVID-19 inflammatory syndrome.

Atopy manifestations in pediatric patients with acute lymphoblastic leukemia: correlation assessment with interleukin-4 (IL-4) and IgE level

BackgroundAcute lymphoblastic leukemia (ALL) is the most common type of cancer in the age range of under 15 years old and accounts for 25–30% of all childhood cancers. Although conventional chemotherapy regimens are used to improve the overall survival rate, it has been associated with some complications, amongst which allergic manifestations with unknown mechanisms are more common.MethodsOur study compared serum IgE and IL-4 concentration, as a hallmark of allergic responses in pediatric ALL patients before and after 6 months of intensive (high-dose) chemotherapy, to show whether changes in the level of these markers may be associated with atopy. Serum level of IL-4 and IgE was measured using enzyme-linked immunosorbent assay (ELISA) method.ResultsThe results showed that the level of IgE and IL-4 increased following chemotherapy in both ALL patients with and without atopy. In addition, post-chemotherapy treatment IgE and IL-4 levels were significantly elevated in patients with atopy compared to those without it. The difference between baseline and post-chemotherapy level of IgE and IL-4 was significantly higher in patients with atopy compared to those without it.ConclusionsTo the best of our knowledge, this is the first study that showed a connection between post-chemotherapy allergic manifestations in pediatric ALL patients and IL-4 and IgE level. Flow cytometry analysis of the T-helper 2 (Th2) lymphocytes and other allergy-related T cell subsets like Tc2 and Th9 as well as the study of the genetic variations in atopy-related genes like IL-4/IL-4R, IL-5, IL-9, IL-13, and high affinity FcεRI IgE receptor and also HLA genes is necessary to clearly define the underlying mechanism responsible for post-chemotherapy hypersensitivity reaction in pediatric ALL patients.

Neurovascular Manifestations in Pediatric Patients With Hereditary Haemorrhagic Telangiectasia

BackgroundHereditary hemorrhagic telangiectasia (HHT) is a multiorgan vascular dysplasia with limited data regarding its neurovascular manifestations and genotype-phenotype correlation in children. The objective of this study was to describe the neurovascular findings in a large cohort of children with HHT and correlate between phenotype and genotype. MethodsThis retrospective study was conducted on 221 children (<18 years) with a definite or possible diagnosis of HHT based on Curacao criteria, or with positive genetics for the mutated genes of ENG, ACVRL-1, and SMAD-4, who also underwent brain MRI and/or conventional angiography. Demographic and clinical information, imaging findings, and follow up information were gathered. ResultsTwo hundred twenty-one children with HHT (70.6% genetically confirmed, and 99.5% positive family history) were included, with a median age of 7 years (interquartile range: 3 to 11 years) and 58.8% male predominance. Neurovascular lesions were found in 64 of 221 (28.9%), with 3.1% prevalence of intracranial hemorrhage. The most commonly observed vascular malformations were developmental venous anomalies (48.5%) and brain arteriovenous malformations (AVMs) (31.2%), followed by capillary malformations (14.1%). Multiple AVMs were seen in 10.0% of the cohort. We found no instances of de novo AVM (1281.8 patient-years).A significantly higher proportion of patients with ENG mutations (19.7%) had brain AVM than those with ACVRL-1 (4.9%) and SMAD-4 (0%) mutations (P < 0.01). There was no significant difference in the hemorrhagic risk of shunting lesions associated with ENG (35.3%) or ACVRL-1 (33.3%) positivity (P = 0.9). ConclusionsWe describe the neurovascular imaging and genetic findings from a large pediatric cohort of HHT, to enhance clinical awareness and guide management of patients with HHT.

Serum Vitamin D levels in pediatric patients and its association with COVID-19 clinical manifestation: A meta-analysis and systematic review

Background: Vitamin D is involved in human immune system homeostasis and thought to be beneficial for COVID-19 patients, including pediatric population. However, there is still a paucity of information on association of serum vitamin D levels and COVID-19 clinical manifestation in pediatric patients. This study evaluated the association between serum vitamin D levels and clinical manifestations of COVID-19 in pediatric patients. Methods: We searched PubMed and Google Scholar for articles reporting association between vitamin D and COVID-19 clinical manifestations in pediatric patients. We searched for English-written articles only. PRISMA-MOOSE guideline and quality checklist was complied and statistical analysis was performed using RevMan 5.4. Results: Ten studies with total of 1,225 patients reported were reviewed. Low vitamin D levels was significantly associated with higher incidence of severe COVID-19 with pooled OR was 5.57 (1.59-19.55; p=0.007). Clinical symptoms were compared between low and normal vitamin D levels. Incidence of fever, cough, ageusia, anosmia, headache, and fatigue were not significantly different between group, with pooled RR was 2.13 (0.13-33.73; p=0.59), 1.25 (0.25-6.22; p=0.78), 0.47 (0.05-4.76; p=0.52), 1.25 (0.21-7.41; p=0.81), 0.91 (0.33-2.55; p=0.86), and 1.02 (0.47-2.22; p=0.96), respectively. The mean count of leukocytes and lymphocytes in the two groups were also not significantly different with pooled RR was -0.49 (-1.39-0.41; p=0.28), and -0.73 (-1.65-0.20; p=0.12), respectively. Conclusion: Low serum vitamin D level (&lt;20 ng/ml) is associated with the severity of COVID-19 in pediatric patients, but do not affect symptoms and laboratory parameters. Vitamin D supplementation might be beneficial for children undergo medical quarantine and isolation.

Ocular Parameter Changes in Pediatric Patients with Nephrotic Syndrome

Abstract Background: Nephrotic syndrome has a relapsing nature that necessitates prolonged use of steroids and other immu-nosuppressive drugs. Systemic steroid administration is asso-ciated with multiple ocular side effects. This study was conducted to report various ocular manifestations in pediatric patients with nephrotic syndrome. Aim Study: The aim of our study is to report various ocular manifestations in children with idiopathic nephrotic-syndrome. Patients and Methods: This cross-sectional case control study included 100 cases diagnosed with nephrotic syndrome and 50 healthy controls. All subjects were subjected to detailed history taking, general examination, and laboratory investiga-tions. Also, comprehensive ophthalmological examination (including visual acuity, slit lamp microscopy, intraocular pressure measurement, and fundus examination) were per-formed. Results: Unaided visual acuity was significantly increased in cases compared to controls, and that was evident in both right and left eyes. IOP was significantly elevated in cases compared to controls (p 0.05). Conclusion: There is an increased incidence of ocular complications in pediatric cases with nephrotic syndrome. It is recommended that these cases should have regular ophthal-mological examination for early detection of these compli-cations.

A Systematic Review of Severe Neurological Manifestations in Pediatric Patients with Coexisting SARS-CoV-2 Infection.

SARS-CoV-2 infection in children produces mild respiratory symptoms or no symptoms at all in most cases. Some pediatric patients develop a severe complication associated with high mortality, the multisystem inflammatory syndrome in children (MIS-C). In both scenarios, there are reports of neurological manifestations. This article aims to review the cases of pediatric patients with severe neurological issues and a coexisting positive SARS-CoV-2 test. A literature search was performed between March 2020 and May 2021. The results included the data from 41 studies, with 159 children with severe neurological manifestations, within an age range from 24 h to 17 years. The neurological disorders included 38 cases with stroke, 32 with encephalitis, 22 with encephalopathy, and 10 with Guillain–Barre syndrome. Sixty-five out of 159 cases with severe neurological manifestations were diagnosed with MIS-C. Direct neuroinvasion and the exaggerated immune response in some patients seem to be the most critical factors triggering these manifestations. Further research in the ongoing pandemic is needed to elucidate the precise mechanism.

Hypohidrotic Ectodermal Dysplasia and Its Manifestations in the Oral Cavity

The Ectodermal Dysplasias generally present orofacial manifestations, such as skeletal discrepancies and dental alterations. Therefore, the role of a paediatric dentist in the detection and recognition of these repercussions can be crucial in early diagnosis of the disease. The oral rehabilitation of paediatric patients with this condition is extremely important, ideally, at a very early stage, yet contributing for the re-establishment of normal chewing, swallowing and phonetics functions, and, naturally, aesthetics increase. The purpose of this narrative review aims to elucidate dentists about their role in the detection, diagnosis, treatment and monitoring of the Ectodermal Dysplasia’ oral manifestations in paediatric patients, through the presentation of general physical and specific craniofacial characteristics.

Ocular manifestations of ectodermal dysplasia

PurposeThe ectodermal dysplasias (EDs) constitute a group of disorders characterized by abnormalities in two or more ectodermal derivatives, including skin, hair, teeth, and sweat glands. The purpose of the current study was to evaluate ocular manifestations in pediatric patients with ED.MethodsRetrospective case series including consecutive ED subjects who were treated in the ophthalmology department at the Children’s Hospital of Philadelphia over a 12-year period (2009–2020). Main Outcome Measures were ocular and ocular adnexal abnormalities.ResultsThirty subjects were included: 20 males (67%), mean age of 4.5 years (range 0.3–18). Patients with different subtypes were included, with the hypohidrotic ED and ectrodactyly-ectodermal dysplasia-clefting variants being most prevalent. Most common findings were: lacrimal drainage obstruction in 12 (40%) including punctal agenesis in 10 (33%), refractive errors in 13 (43%) and amblyopia in 6 (20%). A new finding of eyelid ptosis or eyelash ptosis was demonstrated in 11 subjects (37%), mostly associated with TP63 or EDA1 genes variants.ConclusionEctodermal dysplasias are associated with various ocular pathologies and amblyopia in the pediatric population. We report a possible genetic association between lash ptosis and EDA1 gene, and eyelid ptosis and TP63 or EDA1 genes variants.

Formal neurocognitive function and anti-N-methyl-D-aspartate receptor antibodies in paediatric lupus

ObjectiveSLE is a chronic multisystem autoimmune inflammatory disease impacting a number of organs, including the central nervous system (CNS). The pathophysiology of CNS lupus is multifactorial, making diagnosis problematic. Neurocognitive...