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La Revue Du Praticien Oct 2023MARSHALL SYNDROME. Marshall syndrome also known as PFAPA syndrome belongs to the group of autoinflammatory diseases. The acronym reflects the main clinical features of...
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.
Topics: Humans; Stomatitis, Aphthous; Quality of Life; Cataract; Pharyngitis; Syndrome; Hearing Loss, Sensorineural; Osteochondrodysplasias; Craniofacial Abnormalities; Collagen Type XI
PubMed: 38354003
DOI: No ID Found -
JAAPA : Official Journal of the... Oct 2023Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome is, as the name implies, characterized by an extremely regular cycle of fevers that is...
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome is, as the name implies, characterized by an extremely regular cycle of fevers that is accompanied by one or more other symptoms such as oral ulcers, pharyngitis, adenitis, tonsillitis, sore throat, cervical adenopathy, and headache. Originally known as Marshall syndrome, PFAPA is most commonly identified in children younger than age 5 years; however, adults may also present with the disease, though they may report additional symptoms. PFAPA is now understood to be a diagnosis of exclusion. Laboratory studies are typically unremarkable except for increases in acute phase reactants such as C-reactive protein. Treatment is primarily supportive and most frequently uses systemic steroids to suppress the inflammatory response. Acute flares are self-limited, and the syndrome typically resolves on its own as the child reaches age 7 or 8 years.
Topics: Adult; Child; Humans; Child, Preschool; Stomatitis, Aphthous; Lymphadenopathy; Lymphadenitis; Pharyngitis; Syndrome; Fever
PubMed: 37751263
DOI: 10.1097/01.JAA.0000977712.81696.b9 -
International Journal of Dermatology Jun 2024Acquired cutis laxa (ACL) is a rare, nonhereditary cutaneous disorder characterized by saggy inelastic skin. It has been associated with various inflammatory,... (Review)
Review
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.
PubMed: 38924070
DOI: 10.1111/ijd.17338 -
American Journal of Medical Genetics.... Apr 2024Marshall 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...
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.
Topics: Humans; Child; Female; Mutation; Osteochondrodysplasias; Craniofacial Abnormalities; Hearing Loss, Sensorineural; Syndrome; Cataract; Collagen Type XI
PubMed: 38062645
DOI: 10.1002/ajmg.a.63488 -
Vestnik Oftalmologii 2024Degenerative 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...
UNLABELLED
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.
PURPOSE
The study investigates the features of genetic mutations in children with high myopia combined with peripheral retinal degenerations.
MATERIAL AND METHODS
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).
RESULTS
In patients with isolated cases of ophthalmic pathology (peripheral retinal degenerations and high myopia) with a confirmed genetic diagnosis, mutations in the gene were detected in 77.4% of cases, and in the gene - in 22.6% of cases. In Stickler syndrome with a confirmed genetic diagnosis, mutations in the gene were detected in 33.3% of cases. In Marshall syndrome, the mutation in the gene was detected in 11.1% of cases. In children with Ehlers-Danlos, Knobloch type 1, Cohen, Marfan, Wagner syndromes mutations in the genes , , , , 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.
CONCLUSION
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.
Topics: Child; Humans; Female; Male; Child, Preschool; Adolescent; Retinal Degeneration; Mutation; Eye Diseases, Hereditary; Arthritis; Versicans
PubMed: 38450462
DOI: 10.17116/oftalma202414001119