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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 -
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 -
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 -
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 -
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 -
Rheumatology Advances in Practice 2023Auto-inflammatory diseases (AIDs) result from mutations in genes of the innate immune system leading to periodic multisystemic inflammation. We aimed to describe the...
OBJECTIVE
Auto-inflammatory diseases (AIDs) result from mutations in genes of the innate immune system leading to periodic multisystemic inflammation. We aimed to describe the clinical, biological and molecular features (when available) and outcomes of Moroccan patients with AIDs.
METHODS
Patient data were collected retrospectively and analysed over a 13-year period.
RESULTS
Among 30 patients, 60% had FMF, 16% mevalonate kinase deficiency (MKD) and 24% other AIDs. The mean age at first consultation was 6.9 years, and the mean diagnostic delay was 3 years. Consanguinity was reported in 16 cases. IgA vasculitis was associated with 33% of FMF patients, in whom the main clinical features were fever (88.8%), abdominal pain (100%), arthralgias (88.8%) and arthritis (50%), and the most frequent mutation was M694V (66%). All FMF patients were treated with colchicine. Most MKD patients were confirmed by elevated urinary mevalonic acid levels, and four of five MKD patients received targeted therapy. Chronic recurrent osteomyelitis patients were confirmed by radiological and histological analysis. Two cases of Marshall syndrome were diagnosed according to validated criteria. A case of familial pustular psoriasis was diagnosed based on histological analysis and a patient with Muckle-Wells syndrome by clinical features. The outcome was favourable in 76%, partial in 13%, and three deaths were reported.
CONCLUSION
FMF and MKD are the most reported diseases. AIDs are probably underestimated because they are unknown to clinicians. The aim of this work is to raise awareness among paediatricians about AIDs and create a network for best practice.
PubMed: 36685993
DOI: 10.1093/rap/rkad001 -
Journal of Developmental Biology Sep 2022The expression of the gene is essential for normal skeletal development, affecting both cartilage and bone. Loss of function mutations have been shown to cause...
The expression of the gene is essential for normal skeletal development, affecting both cartilage and bone. Loss of function mutations have been shown to cause abnormalities in the growth plate of long bones, as well as in craniofacial development. However, the specific effects on Meckel's cartilage have not been well studied. To further understand the effect of gene function, we analyzed the developing jaw in zebrafish using gene knockdown by the injection of an antisense morpholino oligonucleotide using transgenic Tg(sp7:EGFP) and Tg(Fli1a:EGFP) EGFP reporter fish, as well as wildtype AB zebrafish. Our results demonstrate that zebrafish knockdown impairs the cellular organization of Meckel's cartilage in the developing jaw and alters the bone formation that occurs adjacent to the Meckel's cartilage. These results suggest roles for Col11a1a protein in cartilage intermediates of bone development, the subsequent mineralization of the bony collar of long bones, and that which occurs adjacent to Meckel's cartilage in the developing jaw.
PubMed: 36278545
DOI: 10.3390/jdb10040040 -
Dermatologie (Heidelberg, Germany) Nov 2022A special form of the rare infantile Sweet syndrome (acute febrile neutrophilic dermatosis) is facultative healing in the form of postinflammatory elastolysis with...
A special form of the rare infantile Sweet syndrome (acute febrile neutrophilic dermatosis) is facultative healing in the form of postinflammatory elastolysis with acquired cutis laxa, named "Marshall" syndrome after the authors who first described it. We report the case of a 3-year-old child in whom the cutaneous manifestation led to diagnosis of Takayasu arteritis. Postinflammatory elastolysis with acquired cutis laxa is a clinically relevant cutaneous indicator of life-threatening cardiovascular complications such as aortitis, aortic aneurysm, coronary stenosis and heart failure in children with Sweet's syndrome. Cutis laxa usually precedes cardiac complications or, as in our case, occurs simultaneously; thus, immediate cardiac and rheumatologic examinations are important to initiate systemic therapy with anti-inflammatory and immunomodulatory agents early to prevent complications.
Topics: Humans; Child, Preschool; Sweet Syndrome; Cutis Laxa; Takayasu Arteritis; Collagen Type XI; Stomatitis, Aphthous; Pharyngitis; Heart Diseases
PubMed: 35925217
DOI: 10.1007/s00105-022-04999-2 -
Pediatric Dermatology Mar 2022Acquired cutis laxa type II (Marshall syndrome) is a post-inflammatory elastolysis occurring in infancy and childhood. It is challenging to treat with very few effective...
Acquired cutis laxa type II (Marshall syndrome) is a post-inflammatory elastolysis occurring in infancy and childhood. It is challenging to treat with very few effective treatment options available. Herein, we describe the case of a 3-month-old boy with acquired cutis laxa type II secondary to a neutrophilic dermatosis. Early treatment of the initial inflammatory phase is essential to reduce the permanent sequelae.
Topics: Cataract; Child; Collagen Type XI; Craniofacial Abnormalities; Cutis Laxa; Hearing Loss, Sensorineural; Humans; Infant; Lymphadenopathy; Male; Osteochondrodysplasias; Pharyngitis; Stomatitis, Aphthous; Syndrome
PubMed: 34929762
DOI: 10.1111/pde.14734 -
Clinical Dysmorphology Jan 2021
Topics: Alleles; Arthritis; Cataract; Collagen Type XI; Connective Tissue Diseases; Craniofacial Abnormalities; Diagnosis, Differential; Genetic Association Studies; Genetic Predisposition to Disease; Genetic Variation; Genotype; Hearing Loss, Sensorineural; Humans; Infant; Male; Osteochondrodysplasias; Phenotype; Retinal Detachment
PubMed: 32897902
DOI: 10.1097/MCD.0000000000000346