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Acta Dermatovenerologica Alpina,... Jun 2022Uncombable hair syndrome presents with frizzy hair in early childhood. Isolated hair manifestations are usually observed; however, systemic involvement of the nervous...
Uncombable hair syndrome presents with frizzy hair in early childhood. Isolated hair manifestations are usually observed; however, systemic involvement of the nervous system, eyes, and ears have also been reported. The syndrome has been classified into three subtypes, correlating with the three mutated genes: peptidyl arginine deiminase, type III; transglutaminase 3; and trichohyalin. This article presents the clinical picture of uncombable hair syndrome with special attention to its systemic manifestations. It also addresses its molecular aspects. Google Scholar was used to retrieve relevant publications. Clinical and molecular data were tabulated and frequencies were calculated. At least 127 cases were identified. Congenital hair defects were reported in two-thirds of cases, in which hair texture (83%), color (52%), density (15%), and growth (11%) were impaired. Uncombable hair rarely involves the eyebrows and eyelashes, and it may co-occur with loose anagen hair syndrome, androgenic alopecia, alopecia areata, and scarring alopecia. Pathologies of the skin, nails, and teeth were reported among 63%, 28%, and 25%, respectively. Systemic abnormalities were not uncommon. Dysmorphic features (n = 8), and neuropsychiatric/developmental (n = 8), ophthalmic (n = 7), otic (n = 4), and cardiopulmonary (n = 3) manifestations were also reported. Molecular genetic analysis of all patients is recommended to identify genotype-phenotype correlation. A general pediatric review might be needed to rule out any potential systemic association.
Topics: Alopecia Areata; Child; Child, Preschool; Hair; Hair Diseases; Humans; Syndrome
PubMed: 35751533
DOI: No ID Found -
Continuum (Minneapolis, Minn.) Jun 2014
Topics: Disease; Humans; Nervous System Diseases
PubMed: 24893231
DOI: 10.1212/01.CON.0000450963.23087.55 -
Journal of Dental Research Jan 2016One challenge in studying chronic infectious and inflammatory disorders is understanding how host pattern recognition receptors (PRRs), specifically toll-like receptors... (Review)
Review
One challenge in studying chronic infectious and inflammatory disorders is understanding how host pattern recognition receptors (PRRs), specifically toll-like receptors (TLRs), sense and respond to pathogen- or damage-associated molecular patterns, their communication with each other and different components of the immune system, and their role in propagating inflammatory stages of disease. The discovery of innate immune activation through nucleic acid recognition by intracellular PRRs such as endosomal TLRs (TLR3, TLR7, TLR8, and TLR9) and cytoplasmic proteins (absent in melanoma 2 and DNA-dependent activator of interferon regulatory factor) opened a new paradigm: Nucleic acid sensing is now implicated in multiple immune and inflammatory conditions (e.g., atherosclerosis, cancer), viral (e.g., human papillomavirus, herpes virus) and bacterial (e.g., Helicobacter pylori, pneumonia) diseases, and autoimmune disorders (e.g., systemic lupus erythematosus, rheumatoid arthritis). Clinical investigations reveal the overexpression of specific nucleic acid sensors in diseased tissues. In vivo animal models show enhanced disease progression associated with receptor activation. The involvement of nucleic acid sensors in various systemic conditions is further supported by studies reporting receptor knockout mice being either protected from or prone to disease. TLR9-mediated inflammation is also implicated in periodontal diseases. Considering that persistent inflammation in the oral cavity is associated with systemic diseases and that oral microbial DNA is isolated at distal sites, nucleic acid sensing may potentially be a link between oral and systemic diseases. In this review, we discuss recent advances in how intracellular PRRs respond to microbial nucleic acids and emerging views on the role of nucleic acid sensors in various systemic diseases. We also highlight new information on the role of intracellular PRRs in the pathogenesis of oral diseases including periodontitis and oral cavity cancer, which might offer future possibilities for disease prevention and therapy.
Topics: Animals; DNA; DNA-Binding Proteins; Disease; Host-Pathogen Interactions; Humans; Immunity, Innate; Periodontitis; RNA-Binding Proteins; Receptors, Pattern Recognition; Toll-Like Receptors
PubMed: 26438211
DOI: 10.1177/0022034515609062 -
Nihon Rinsho Men'eki Gakkai Kaishi =... Feb 2008Mikulicz's disease represents persistent enlargement of the lacrimal and salivary glands, and autoimmune pancreatitis is shown with diffuse pancreatic swelling. Both... (Review)
Review
Mikulicz's disease represents persistent enlargement of the lacrimal and salivary glands, and autoimmune pancreatitis is shown with diffuse pancreatic swelling. Both diseases are characterized with elevated IgG4 concentrations in the serum and prominent infiltration by plasmacytes expressing IgG4 in the glands. Clinical analyses were performed in 40 patients with systemic IgG4-related plasmacytic syndrome (SIPS) who consulted the doctors in Sapporo Medical University Hospital. Our patients were mainly middle-aged or elderly females. The average age was 58.9 years. The diagnosis was following ; 33 cases with Mikulicz's disease, 3 cases with Küttner's tumor, and 4 cases with IgG4-related dacryoadenitis. Slight dysfunction of lacrimal and salivary gland was observed in about 60% of them. Antinuclear antibodies were detected in only 15% of the cases with SIPS. Almost all, except one case, did not have anti-SS-A or anti-SS-B antibodies. Interestingly, hypocomplementemia was revealed in 30% of them. The complications of SIPS include autoimmune pancreatitis, tubulointerstitial nephritis, retroperitoneal fibrosis, prostatitis, and so on. SIPS is mainly treated by the administration of steroids. We started to prescribe much quantity of prednisolone to the patients with organ failure. The recurrence was admitted in the 3 patients for the followed 16 years. We present here the problems and prospects in SIPS.
Topics: Adult; Aged; Aged, 80 and over; Female; Humans; Immunoglobulin G; Male; Middle Aged; Mikulicz' Disease; Plasma Cells; Sjogren's Syndrome; Syndrome
PubMed: 18311037
DOI: 10.2177/jsci.31.1 -
Experimental Biology and Medicine... Feb 2022Sickle cell disease (SCD) is characterized by vaso-occlusion, hemolysis, and systemic manifestations that form the hallmark of the disease. Apart from morbidity, SCD is... (Review)
Review
Sickle cell disease (SCD) is characterized by vaso-occlusion, hemolysis, and systemic manifestations that form the hallmark of the disease. Apart from morbidity, SCD is also associated with increased mortality and decreased quality of life. Aging is a natural phenomenon that is associated with changes at cellular, tissue, and organ levels, in addition to the loss of physical fitness, increased susceptibility to diseases, and a higher likelihood of mortality. Some of the cellular mechanisms involved in normal (or physiological) aging include abnormalities of sphingolipids (ceramides) and reduced length of the telomere. These changes have also been documented in SCD. Cellular, organs, and physical manifestations of SCD resemble an accelerated aging syndrome. Sickle erythrocytes also acquire morphological features similar to that of aged normal erythrocytes and are thus picked up early by the macrophages for destruction. Brain, kidney, heart, innate and adaptive immune system, and musculoskeletal system of patients with SCD exhibit morphological and functional changes that are ordinarily seen in the elderly in the general population. Stroke, silent cerebral infarcts, cardiomegaly, heart failure, pulmonary hypertension, nephropathy with proteinuria, osteopenia, osteoporosis, osteonecrosis, gout, and infections are exceedingly common in SCD. In this review, we have attempted to draw parallels between SCD and accelerated aging syndromes.
Topics: Aged; Aging; Anemia, Sickle Cell; Humans; Quality of Life; Stroke; Syndrome
PubMed: 35172625
DOI: 10.1177/15353702211068522 -
Anais Brasileiros de Dermatologia 2015Laugier-Hunziker syndrome is a rare, acquired disorder characterized by lenticular hyperpigmentation of the oral mucosa and longitudinal melanonychia. We present the...
Laugier-Hunziker syndrome is a rare, acquired disorder characterized by lenticular hyperpigmentation of the oral mucosa and longitudinal melanonychia. We present the case of a 63-year-old female with progressive, asymptomatic hyperpigmentation of buccal mucosa and a 7-year history of hyperpigmentation in several fingernails. Laugier-Hunziker syndrome was diagnosed based on the clinical features presented, dermoscopic findings and exclusion of underlying systemic diseases. Laugier-Hunziker syndrome is regarded as a diagnosis of exclusion. By identifying Laugier-Hunziker syndrome, other, more severe syndromes associated with hyperpigmentations can be excluded, namely Addison's disease and Peutz-Jeghers syndrome.
Topics: Diagnosis, Differential; Female; Humans; Hyperpigmentation; Middle Aged; Mouth Diseases; Mouth Mucosa; Nail Diseases; Syndrome
PubMed: 26312723
DOI: 10.1590/abd1806-4841.20153840 -
Hernia : the Journal of Hernias and... Apr 2022The surgical implantation of polypropylene (PP) meshes has been linked to the occurrence of systemic autoimmune disorders. We performed a systematic review to determine... (Meta-Analysis)
Meta-Analysis Review
PURPOSE
The surgical implantation of polypropylene (PP) meshes has been linked to the occurrence of systemic autoimmune disorders. We performed a systematic review to determine whether PP implants for inguinal, ventral hernia or pelvic floor surgery are associated with the development of systemic autoimmune syndromes.
METHODS
We searched Embase, Medline, Web of Science, Scopus, Cochrane library, clinicaltrialsregister.eu, clinicaltrails.gov and WHO-ICTR platform. Last search was performed on November 24th 2021. All types of studies reporting systemic inflammatory/autoimmune response in patients having a PP implant for either pelvic floor surgery, ventral or inguinal hernia repair were included. Animal studies, case reports and articles without full text were excluded. We intended to perform a meta-analysis. The quality of evidence was assessed with the Newcastle-Ottawa Scale. This study was registered at Prospero (CRD42020220705).
RESULTS
Of 2137 records identified, 4 were eligible. Two retrospective matched cohort studies focused on mesh surgery for vaginal prolapse or inguinal hernia compared to hysterectomy and colonoscopy, respectively. One cohort study compared the incidence of systemic conditions in women having urinary incontinence surgery with and without mesh. These reports had a low risk of bias. A meta-analysis showed no association when comparing systemic disease between mesh and control groups. Calculated risk ratio was 0.9 (95% CI 0.82-0.98). The fourth study was a case series with a high risk of bias, with a sample of 714 patients with systemic disease, 40 of whom had PP mesh implanted.
CONCLUSION
There is no evidence to suggest a causal relationship between being implanted with a PP mesh and the occurrence of autoimmune disorders.
Topics: Animals; Autoimmune Diseases; Cohort Studies; Female; Hernia, Inguinal; Herniorrhaphy; Humans; Polypropylenes; Retrospective Studies; Surgical Mesh; Syndrome
PubMed: 35020091
DOI: 10.1007/s10029-021-02553-y -
Journal of Clinical Research in... 2014Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth... (Review)
Review
Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome and Aarskog-Scott syndrome) were discussed. These disorders are associated with a number of endocrinopathies, as well as with developmental, systemic and behavioral issues. At present, GH therapy is used in most syndromic disorders, although long-term studies evaluating this treatment are insufficient and some controversies exist with regard to GH dose, optimal age to begin therapy and adverse effects. Before starting GH treatment, patients with syndromic disorders should be evaluated extensively.
Topics: Dwarfism; Growth Disorders; Human Growth Hormone; Humans; Syndrome
PubMed: 24637303
DOI: 10.4274/Jcrpe.1149 -
International Journal of Molecular... Apr 2021Periodontitis is considered a promoter of many systemic diseases, but the signaling pathways of this interconnection remain elusive. Recently, it became evident that... (Review)
Review
Periodontitis is considered a promoter of many systemic diseases, but the signaling pathways of this interconnection remain elusive. Recently, it became evident that certain microbial challenges promote a heightened response of myeloid cell populations to subsequent infections either with the same or other pathogens. This phenomenon involves changes in the cell epigenetic and transcription, and is referred to as ''trained immunity''. It acts via modulation of hematopoietic stem and progenitor cells (HSPCs). A main modulation driver is the sustained, persistent low-level transmission of lipopolysaccharide from the periodontal pocket into the peripheral blood. Subsequently, the neutrophil phenotype changes and neutrophils become hyper-responsive and prone to boosted formation of neutrophil extracellular traps (NET). Cytotoxic neutrophil proteases and histones are responsible for ulcer formations on the pocket epithelium, which foster bacteremia and endoxemia. The latter promote systemic low-grade inflammation (SLGI), a precondition for many systemic diseases and some of them, e.g., atherosclerosis, diabetes etc., can be triggered by SLGI alone. Either reverting the polarized neutrophils back to the homeostatic state or attenuation of neutrophil hyper-responsiveness in periodontitis might be an approach to diminish or even to prevent systemic diseases.
Topics: Animals; Disease; Endotoxemia; Humans; Lipopolysaccharides; Neutrophils; Periodontitis
PubMed: 33925019
DOI: 10.3390/ijms22094647 -
Seminars in Immunopathology Jul 2015Monogenic diseases usually demonstrate Mendelian inheritance and are caused by highly penetrant genetic variants of a single gene. In contrast, genetically complex... (Review)
Review
Monogenic diseases usually demonstrate Mendelian inheritance and are caused by highly penetrant genetic variants of a single gene. In contrast, genetically complex diseases arise from a combination of multiple genetic and environmental factors. The concept of autoinflammation originally emerged from the identification of individual, activating lesions of the innate immune system as the molecular basis of the hereditary periodic fever syndromes. In addition to these rare, monogenic forms of autoinflammation, genetically complex autoinflammatory diseases like the periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, chronic recurrent multifocal osteomyelitis (CRMO), Behçet's disease, and systemic arthritis also fulfill the definition of autoinflammatory diseases-namely, the development of apparently unprovoked episodes of inflammation without identifiable exogenous triggers and in the absence of autoimmunity. Interestingly, investigations of these genetically complex autoinflammatory diseases have implicated both innate and adaptive immune abnormalities, blurring the line between autoinflammation and autoimmunity. This reinforces the paradigm of concerted innate and adaptive immune dysfunction leading to genetically complex autoinflammatory phenotypes.
Topics: Autoimmune Diseases; Genetic Association Studies; Hereditary Autoinflammatory Diseases; Humans; Inflammation; Multifactorial Inheritance; Syndrome
PubMed: 26077134
DOI: 10.1007/s00281-015-0498-0