scholarly journals Skin manifestations of autoimmune diseases in the pediatrics

2021 ◽  
Author(s):  
Nawal R. Alyamani ◽  
Ridha M. Alsuwayq ◽  
Nawaf M. Bahatheq ◽  
Zahra A. Alkhatir ◽  
Arwa W. Alhawdar ◽  
...  
Keyword(s):  
Autoimmune Diseases ◽  
Pediatric Population ◽  
Careful Examination ◽  
Adequate Treatment ◽  
Cutaneous Manifestations ◽  
Multiple Systems ◽  
Best Management ◽  
Diagnostic Approaches ◽  
Management Modality ◽  
Underlying Diseases

Autoimmune diseases during childhood are common and are usually observed to affect multiple systems. Among many pediatric autoimmune diseases, several cutaneous manifestations were reported in the literature, and the adequate examination and detection of these manifestations might significantly enhance the chances of establishing an adequate diagnosis of the underlying diseases and conditions because the affected patients usually present with typical symptoms. Establishing a proper diagnosis can enhance the prognosis of the affected patients and might prevent the development of serious complications and other adverse events. Besides, it was also previously indicated that establishing an early diagnosis will furtherly help with deciding the most appropriate interventions, which will also enhance the prognosis of the pediatric population. In this literature review, we have discussed the cutaneous manifestations of several autoimmune diseases that might affect the pediatric population. We have majorly discussed the conditions that are associated with systemic lupus, juvenile idiopathic arthritis, dermatomyositis, juvenile-onset systemic sclerosis and morphea. The cutaneous manifestations of these conditions are hugely variable and usually need careful examination and adequate differential diagnosis to establish the best management modality. Besides, some manifestations might gradually develop which might even make the diagnostic approaches even more difficult. Accordingly, clinicians should provide full and thorough examination and diagnosis of the suspected patients because detecting such cases might significantly enhance the prognosis and lead to adequate treatment. 

Fluorescent in situ hybridization (FISH): A useful diagnostic tool for childhood conjunctival melanoma

2021 ◽  
pp. 112067212110307
Author(s):  
Raquel María Moral ◽  
Carlos Monteagudo ◽  
Javier Muriel ◽  
Lucía Moreno ◽  
Ana María Peiró
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
Pediatric Population ◽  
Diagnostic Technique ◽  
Histopathological Diagnosis ◽  
Fish Analysis ◽  
Conjunctival Melanoma ◽  
Adequate Treatment ◽  
First Case

Introduction: Conjunctival melanoma is extremely rare in children and has low rates of resolution. Definitive histopathological diagnosis based exclusively on microscopic findings is sometimes difficult. Thus, early diagnosis and adequate treatment are essential to improve clinical outcomes. Clinical case: We present the first case in which the fluorescent in situ hybridization (FISH) diagnostic technique was applied to a 10-year-old boy initially suspected of having amelanotic nevi in his right eye. Based on the 65% of tumor cells with 11q13 (CCND1) copy number gain and 33% with 6p25 (RREB1) gain as measured by the FISH analysis, and on supporting histopathological findings, the diagnosis of conjunctival melanoma could be made. Following a larger re-excision, adjuvant therapy with Mitomycin C (MMC), cryotherapy and an amniotic membrane graft, the patient has remained disease-free during 9 years of long-term follow-up. Case discussion: Every ophthalmologist should remember to consider and not forget the possibility of using FISH analyses during the differential diagnosis of any suspicious conjunctival lesions. Genetic techniques, such as FISH, have led to great advances in the classification of ambiguous lesions. Evidence-based guidelines for diagnosing conjunctival melanoma in the pediatric population are needed to determine the most appropriate strategy for this age group.

scholarly journals Atypical and Rare Forms of Cutaneous Lupus Erythematosus: The Importance of the Diagnosis for the Best Management of Patients

Dermatology ◽  
2021 ◽  
pp. 1-10
Author(s):  
Astrid Herzum ◽  
Giulia Gasparini ◽  
Emanuele Cozzani ◽  
Martina Burlando ◽  
Aurora Parodi
Keyword(s):  
General Practitioner ◽  
Autoimmune Disease ◽  
Lupus Erythematosus ◽  
Cutaneous Lupus Erythematosus ◽  
Cutaneous Manifestations ◽  
Skin Manifestation ◽  
Systemic Involvement ◽  
Best Management ◽  
Wide Range ◽  
Cutaneous Lupus

Lupus erythematosus (LE) is an autoimmune disease with a wide range of clinical and cutaneous manifestations. Along with the well-known typical cutaneous manifestations of LE, some cutaneous manifestations are rarer, but still characteristic, enabling the dermatologist and the general practitioner who know them to suspect cutaneous LE (CLE) and investigate a possible underlying systemic involvement. Indeed, not infrequently a skin manifestation is the first presentation of systemic LE (SLE), and >75% of SLE patients show signs of skin disease during the course of the illness. Especially, SLE involvement occurs in cases of acute CLE, while it is uncommon in subacute CLE and rare in chronic CLE. This review aims to concentrate especially on atypical cutaneous manifestations of LE to enable the clinician to diagnose even the rarest forms of CLE.

Hyper-IgE Syndrome in an Infant

2016 ◽  
Vol 20 (4) ◽  
pp. 340-342 ◽  
Author(s):  
Mariah Giberson ◽  
Laura Finlayson
Keyword(s):  
Clinical Presentation ◽  
Neonatal Period ◽  
Immunoglobulin E ◽  
Current Theory ◽  
Primary Immunodeficiency Disorder ◽  
Multisystem Disorder ◽  
Cutaneous Manifestations ◽  
Multiple Systems ◽  
Hyper Ige Syndrome ◽  
Immunodeficiency Disorder

Background: Hyper–immunoglobulin E syndrome (HIES) is a rare primary immunodeficiency disorder that affects multiple systems. One of the early findings is a papulopustular rash, which has a wide differential diagnosis. Method: The authors report the case of a male newborn diagnosed with HIES. He presented with papulopustular dermatitis on the scalp. The authors also present a review of current theory on the pathophysiology, clinical presentation, and management of HIES. Conclusion: Although HIES is a multisystem disorder, many of the manifestations of HIES may present after the neonatal period. The cutaneous manifestations of HIES are usually present shortly after birth, and the presentation of pustules in a newborn may be one of the reasons a dermatologist would be asked to assess a patient in the neonatal period.

Screening for hypophosphatasia: does biochemistry lead the way?

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Corinna Melanie Held ◽  
Anic Guebelin ◽  
Andreas Krebs ◽  
Jörn Oliver Sass ◽  
Michael Wurm ◽  
...  
Keyword(s):  
Alkaline Phosphatase ◽  
Enzyme Replacement Therapy ◽  
Pediatric Population ◽  
Laboratory Data ◽  
Diagnostic Algorithm ◽  
Inorganic Pyrophosphate ◽  
Enzyme Replacement ◽  
Underlying Diseases ◽  
Data Screening ◽  
Serum And Urine

Abstract Objectives Patients with childhood hypophosphatasia (HPP) often have unspecific symptoms. It was our aim to identify patients with mild forms of HPP by laboratory data screening for decreased alkaline phosphatase (AP) within a pediatric population. Methods We conducted a retrospective hospital-based data screening for AP activity below the following limits: Girls: ≤12 years: <125 U/L; >12 years: <50 U/L Boys: ≤14 years: <125 U/L; >14 years: <70 U/L. Screening positive patients with otherwise unexplained hypophosphatasemia were invited for further diagnostics: Re-test of AP activity, pyridoxal 5′-phosphate (PLP) in hemolyzed whole blood, phosphoethanolamine (PEA) in serum and urine, and inorganic pyrophosphate in urine. Sequencing of the ALPL gene was performed in patients with clinical and/or laboratory abnormalities suspicious for HPP. Results We assessed a total of 14,913 samples of 6,731 patients and identified 393 screening-positive patients. The majority of patients were excluded due to known underlying diseases causing AP depression. Of the 30 patients who participated in the study, three had a decrease in AP activity in combination with an increase in PLP and PEA. A heterozygous ALPL mutation was detected in each of them: One patient with a short stature was diagnosed with childhood-HPP and started with enzyme replacement therapy. The remaining two are considered as mutation carriers without osseous manifestation of the disease. Conclusions A diagnostic algorithm based on decreased AP is able to identify patients with ALPL mutation after exclusion of the differential diagnoses of hypophosphatasemia and with additional evidence of increased AP substrates.

scholarly journals Best management modality of trichobezoar: A case report

2018 ◽  
Vol 53 ◽  
pp. 458-460 ◽  
Author(s):  
Emad M. Al-Osail ◽  
N.Y. Zakary ◽  
Yasir Abdelhadi
Keyword(s):  
Case Report ◽  
Best Management ◽  
Management Modality

Acquired Immune Deficiency Syndrome–Associated Kaposi Sarcoma in a Child Presenting as a Solitary Plantar Hyperkeratotic Plaque

2017 ◽  
Vol 21 (4) ◽  
pp. 348-350
Author(s):  
Pierre-Olivier Grenier ◽  
Isabelle Auger
Keyword(s):  
Immune Deficiency ◽  
Skin Biopsy ◽  
Highly Active Antiretroviral Therapy ◽  
Pediatric Population ◽  
Kaposi Sarcoma ◽  
Immune Deficiency Syndrome ◽  
Acquired Immune Deficiency Syndrome ◽  
Deficiency Syndrome ◽  
Cutaneous Manifestations ◽  
Acquired Immune Deficiency

Background and Objective: Acquired immune deficiency syndrome (AIDS)–associated Kaposi sarcoma (KS) among the pediatric population is a rare entity in North America and Europe, and its cutaneous manifestations are not well defined in the literature. The investigators report the case of a boy with an AIDS-associated KS presenting as an infiltrated hyperkeratotic plaque of the plantar arch. Methods and Results: An 11-year-old African boy with congenital human immunodeficiency virus (HIV) had a skin biopsy of the plantar lesion that was consistent with a KS. The patient also presented intestinal and pulmonary symptoms; combined chemotherapy regimen and highly active antiretroviral therapy were given in the presence of systemic involvement. Conclusion: AIDS-associated KS poses a particular challenge to clinical diagnosis, since it can manifest with a variety of lesions. Dermatologists should have a low threshold for performing a skin biopsy in patients with HIV.

scholarly journals Postoperative complicated appendectomy revealing Crohn’s disease in a pediatric patient

2021 ◽  
Vol 8 (1) ◽  
pp. 154-160
Author(s):  
Augustina Enculescu ◽  
Mircea Lupusoru ◽  
Catalin Cirstoveanu ◽  
Andra-Iulia Suceveanu ◽  
Liliana Andronache ◽  
...  
Keyword(s):  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Acute Appendicitis ◽  
Histopathological Examination ◽  
Pediatric Population ◽  
Pathological Examination ◽  
Ileocecal Resection ◽  
Initial Manifestation ◽  
Adequate Treatment ◽  
Granulomatous Appendicitis

Granulomatous appendicitis is a very rare entity in children. It is related to Crohn’s disease in only 5-10% of the cases. The diagnosis of Crohn’s disease is a real challenge in the pediatric population, especially when its initial manifestation is acute appendicitis. Herein, we present a 13-year-old boy admitted for acute appendicitis. The histopathological examination was conclusive for acute granulomatous appendicitis. The development of an entero-cutaneous fistula has complicated the postoperative evolution. The failure of the conservative management required ileocecal resection. The pathological examination revealed Crohn’s disease. The one-year follow-up on the patient din not reveal any complications. We strongly support the importance of the histopathological examination of the entirely removed appendix. Careful assessment of granulomatous appendicitis is needed in order to establish its possible etiology and to initiate the adequate treatment.

AB0733 Localized Scleroderma: Extra-Cutaneous Manifestations and Association with Other Autoimmune Diseases in a Series of 78 Cases

2015 ◽  
Vol 74 (Suppl 2) ◽  
pp. 1143.3-1143
Author(s):  
W.A. Sifuentes Giraldo ◽  
C. Sobrino Grande ◽  
L. Villalobos Sánchez ◽  
A. Alia Jiménez ◽  
E. de Las Heras Alonso ◽  
...  
Keyword(s):  
Autoimmune Diseases ◽  
Localized Scleroderma ◽  
Cutaneous Manifestations

scholarly journals Intestinal Microbiota in Common Chronic Inflammatory Disorders Affecting Children

2021 ◽  
Vol 12 ◽  
Author(s):  
Anna Torun ◽  
Anna Hupalowska ◽  
Piotr Trzonkowski ◽  
Jaroslaw Kierkus ◽  
Beata Pyrzynska
Keyword(s):  
Quality Of Life ◽  
Immune System ◽  
Gut Microbiota ◽  
Autoimmune Diseases ◽  
Pediatric Population ◽  
Genetically Engineered ◽  
Intestinal Microbiome ◽  
Antigen Receptors ◽  
Inflammatory Disorders

The incidence and prevalence rate of chronic inflammatory disorders is on the rise in the pediatric population. Recent research indicates the crucial role of interactions between the altered intestinal microbiome and the immune system in the pathogenesis of several chronic inflammatory disorders in children, such as inflammatory bowel disease (IBD) and autoimmune diseases, such as type 1 diabetes mellitus (T1DM) and celiac disease (CeD). Here, we review recent knowledge concerning the pathogenic mechanisms underlying these disorders, and summarize the facts suggesting that the initiation and progression of IBD, T1DM, and CeD can be partially attributed to disturbances in the patterns of composition and abundance of the gut microbiota. The standard available therapies for chronic inflammatory disorders in children largely aim to treat symptoms. Although constant efforts are being made to maximize the quality of life for children in the long-term, sustained improvements are still difficult to achieve. Additional challenges are the changing physiology associated with growth and development of children, a population that is particularly susceptible to medication-related adverse effects. In this review, we explore new promising therapeutic approaches aimed at modulation of either gut microbiota or the activity of the immune system to induce a long-lasting remission of chronic inflammatory disorders. Recent preclinical studies and clinical trials have evaluated new approaches, for instance the adoptive transfer of immune cells, with genetically engineered regulatory T cells expressing antigen-specific chimeric antigen receptors. These approaches have revolutionized cancer treatments and have the potential for the protection of high-risk children from developing autoimmune diseases and effective management of inflammatory disorders. The review also focuses on the findings of studies that indicate that the responses to a variety of immunotherapies can be enhanced by strategic manipulation of gut microbiota, thus emphasizing on the importance of proper interaction between the gut microbiota and immune system for sustained health benefits and improvement of the quality of life of pediatric patients.

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