PFAPA (Periodic Fever, Aphthous stomatitis, Pharyngitis, Adenitis) or Marshall syndrome is the most frequent cause of recurrent auto-inflammatory fever in children. Frequent episodes impair the child's quality of life and family life. Total tonsillectomy demonstrated efficacy in improving symptoms, but few studies assessed partial tonsillectomy in this indication. The aim of the present study was to assess postoperative course after partial tonsillectomy for PFAPA syndrome, with comparison to total tonsillectomy. This retrospective cohort study adhered to STROBE guidelines. It included children with PFAPA syndrome on EUROFEVER criteria, treated by partial or total tonsillectomy between January 1, 2011 and December 31, 2022 in our university hospital center. For comparisons, the significance threshold was set at P<0.005. Thirty-six children were included: 16 with partial and 20 with total tonsillectomy. With partial tonsillectomy, the number of episodes decreased by 10 per year (range, 5-21) (P<0.005) over 6 years' follow-up. The decrease was 50% with partial tonsillectomy and 93% with total tonsillectomy (P=0.056). The decrease in number was statistically suggestive (P=0.028). There were no complications with partial tonsillectomy and 2 patients with complications (10%) with total tonsillectomy. Two of the 16 patients with partial tonsillectomy (12.5%) required totalization, achieving remission in both cases. Partial tonsillectomy significantly reduced the frequency, duration and intensity of postoperative episodes in PFAPA syndrome. It may be less effective than total tonsillectomy, but has a lower risk of complications awaiting remission in adolescence.

Acquired cutis laxa (ACL) is a rare, nonhereditary cutaneous disorder characterized by saggy inelastic skin. It has been associated with various inflammatory, autoimmune, and neoplastic diseases, in addition to certain infections and medication. This article reviews ACL the demographical, clinical, and histological features of ACL, focusing on all associated disorders. Additionally, this review article provides an in-depth discussion of all the mechanisms implicated in the pathogenesis of ACL and all therapeutic options available; we also present an algorithm for the workup of patients with ACL. A systematic literature review was performed on PubMed/Medline and EMBASE databases, searching for all available articles on ACL with no limits on participant age, race, sex, nationality, or publication date. Ninety-eight articles were included. The total number of included patients was 110, with a mean age of 36.4 years at presentation (range 0.25-78) and a M:F sex ratio of 1.24. ACL was most commonly associated with inflammatory disorders (43%) followed by neoplastic disorders (27%). In 73% of the neoplastic-associated cases, ACL occurred on average 2.4 years before malignancy onset. ACL occurs months to years after an underlying inflammatory disorder. In 10% of the cases, ACL was associated with a particular drug, and in 2%, it was associated with specific infections. Data were derived from case reports, case series, letters to editors, observational studies, and abstracts. Limitations include the accuracy of published data, potential patient selection, and reporting bias. Dermatologists should be alert to these associations to provide adequate screening and management of patients with ACL.

Degenerative changes in the peripheral regions of the ocular fundus allow a closer look at both the role of collagen genes and their mutations in children with high myopia. The study investigates the features of genetic mutations in children with high myopia combined with peripheral retinal degenerations. Study group was formed from the database of genetic studies of the Scientific and Clinical Center OOO Oftalmic, which consists of 4362 patients referred for medical genetic counseling and molecular genetic testing from 2016 to 2021. Selection criteria were: male and female patients, aged 5-18 years old, who had the following clinical signs: high myopia (>6.00 D) and the presence of peripheral retinal degenerations (PRD). The study considered both isolated cases of ophthalmic pathology, as well as its syndromic forms. The final selection included 40 children. All patients had consulted with a geneticist. Whole-exome sequencing (WES), next generation sequencing (NGS), and single gene sequencing were conducted by taking 5 mL of peripheral venous blood and extracting deoxyribonucleic acid (DNA). In patients with isolated cases of ophthalmic pathology (peripheral retinal degenerations and high myopia) with a confirmed genetic diagnosis, mutations in the COL2A1 gene were detected in 77.4% of cases, and in the COL11A1 gene - in 22.6% of cases. In Stickler syndrome with a confirmed genetic diagnosis, mutations in the COL2A1 gene were detected in 33.3% of cases. In Marshall syndrome, the mutation in the COL11A1 gene was detected in 11.1% of cases. In children with Ehlers-Danlos, Knobloch type 1, Cohen, Marfan, Wagner syndromes mutations in the genes COL5A1, COL18A1, VPS13B, FBN1, VCAN were detected in 55.6% of cases. In 33.3% of cases of Knobloch type 1, Cohen, Wagner syndromes the mutation is found in both copies of the gene (i.e., in both chromosomes), which leads to the development of peripheral retinal degenerations with high myopia. The results of the conducted molecular genetic testing expand our understanding of the mutation spectrum in the genes of children with both isolated cases of ophthalmic pathology, as well as syndromic pathology. Дегенеративные изменения в периферических отделах глазного дна позволяют подробнее рассматривать как роль генов коллагенов, так и их мутации у детей с высокой близорукостью. Изучить особенности мутаций в генах у детей с высокой близорукостью, сочетающейся с периферическими витреохориоретинальными дистрофиями (ПВХРД). Проведена выборка по базе генетических исследований Научно-клинического центра (НКЦ) «Офтальмик» из 4362 пациентов, направленных на медико-генетическую консультацию и молекулярно-генетическое тестирование с 2016 по 2021 г. Критерии выборки: возраст 5—18 лет, пациенты обоих полов, клинические признаки: миопия высокой степени (>6,0 дптр), наличие ПВХРД. Рассматривались как изолированная патология органа зрения, так и синдромные формы. Отобраны 40 детей. Проводилась консультация генетика. Полноэкзомное секвенирование (whole-exome sequencing, WES) и секвенирование нового поколения (next generation sequencing, NGS-панели), а также секвенирование отдельных генов проводили путем забора 5 мл периферической венозной крови и выделения ДНК. У детей с изолированной патологией органа зрения (ПВХРД с высокой миопией) с подтвержденным генетическим диагнозом в 77,4% случаев выявлены мутации в гене COL2A1 и в 22,6% — в гене COL11A1. При синдроме Стиклера с подтвержденным генетическим диагнозом мутации в гене COL2A1 выявлены в 33,3% случаев. При синдроме Маршалла в 11,1% случаев выявлена мутация в гене COL11A1. У детей с синдромальной патологией (Элерса—Данло, Кноблоха 1-го типа, Коэна, Марфана, Вагнера) в 55,6% случаев выявлены мутации в генах COL5A1, COL18A1, VPS13B, FBN1, VCAN. В 33,3% случаев синдромальной патологии (синдром Кноблоха 1-го типа, синдром Коэна, синдром Вагнера) мутация определяется в обеих копиях гена (т.е. в обеих хромосомах), что приводит к развитию витреохориоретинальных дистрофий с высокой близорукостью. Результаты проведенных молекулярно-генетических тестирований расширяют представления о мутационном спектре в генах детей как с изолированной патологией органа зрения, так и с синдромальной патологией.

Marshall syndrome is an extremely rare genetic disorder usually diagnosed in infancy with a prevalence of <1 in 1 million. Based on the literature reviewed, this is the first case report to provide a longitudinal history of a child with Marshall syndrome (from birth to age 12.5 years). This longitudinal case report arose in part from desires of this child's parents to share the story of their early fears at her initial diagnosis and compare those to how well she has turned out.

MARSHALL SYNDROME. Marshall syndrome also known as PFAPA syndrome belongs to the group of autoinflammatory diseases. The acronym reflects the main clinical features of the disease: periodic fever, aphthous stomatitis, pharyngitis, and adenitis. It is the most common autoinflammatory disease, beginning between 1 and 5 years of age. There is little or no impact on growth, but the recurrence of febrile seizures can compromise the quality of life of patients. Clinical diagnosis meets positive and exclusion criteria. Putting it correctly allows a reassuring framework of care and avoids many unnecessary antibiotic treatments. Corticosteroid therapy is the reference treatment for the crisis. Tonsillectomy associated with adenoidectomy can be discussed but is not systematically recommended in this pathology, which is generally benign and most often heals spontaneously with age. SYNDROME DE MARSHALL. Le syndrome de Marshall, aussi connu sous le nom de syndrome PFAPA, appartient au groupe des maladies auto-inflammatoires. L’acronyme reflète les principales caractéristiques cliniques de la maladie : fièvre périodique, aphtes, pharyngite, adénite. Il s’agit de la maladie auto-inflammatoire la plus fréquente, débutant entre 1 et 5 ans. Il n’y a pas ou peu de retentissement sur la croissance, mais la récurrence des accès fébriles peut obérer la qualité de vie des patients. Le diagnostic clinique répond à des critères positifs et d’exclusion. Bien poser celui-ci permet de poser un cadre de prise en charge rassurant pour l’entourage et d’éviter de nombreux traitements antibiotiques inutiles. La corticothérapie est le traitement de référence de la crise. L’amygdalectomie associée à l’adénoïdectomie peut être discutée mais n’est pas recommandée de façon systématique dans cette pathologie en général bénigne et guérissant le plus souvent spontanément avec l’âge.