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Journal of the American Academy of... Mar 2021
Topics: Adult; Age of Onset; Aged; Diagnosis, Differential; Female; Hair Color; Hair Diseases; Humans; Male; Middle Aged; Pigmentation Disorders; Retrospective Studies; Tuberous Sclerosis; Young Adult
PubMed: 32416202
DOI: 10.1016/j.jaad.2020.05.038 -
Molecular Vision Aug 2009Vogt-Koyanagi-Harada (VKH) syndrome is an autoimmune disease. The monocyte chemoattractant protein-1 (MCP-1) gene has been implicated in the pathogenesis of certain...
PURPOSE
Vogt-Koyanagi-Harada (VKH) syndrome is an autoimmune disease. The monocyte chemoattractant protein-1 (MCP-1) gene has been implicated in the pathogenesis of certain autoimmune diseases. The aim of this study was to examine whether a MCP-1 polymorphism was associated with VKH syndrome.
METHODS
A case-control analysis was performed using genomic DNA samples from 307 VKH patients and 319 age-, sex-, and ethnically-matched healthy controls. The MCP-1 polymorphism at the -2518 A/G locus was genotyped using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assay.
RESULTS
The distribution of genotypic frequency of the MCP-1 -2518 A/G polymorphism in all subjects did not deviate from Hardy-Weinberg equilibrium (HWE; p>0.05). Allelic and genotypic frequency analysis revealed no significant difference between VKH patients and healthy controls for the MCP-1 -2518 A/G polymorphism (p>0.05). No significant differences were found according to gender and neither was found according to extraocular findings including neck stiffness, tinnitus, alopecia, poliosis, dysacusia, scalp hypersensitivity, and vitiligo.
CONCLUSIONS
The result suggests that the susceptibility to VKH syndrome in Chinese Han patients may be not influenced by the MCP-1 -2518 A/G polymorphism.
Topics: Adult; Asian People; Case-Control Studies; Chemokine CCL2; China; Female; Gene Frequency; Genotype; Humans; Male; Polymorphism, Single Nucleotide; Uveomeningoencephalitic Syndrome
PubMed: 19668598
DOI: No ID Found -
Molecular Vision 2019The and genes are said to be associated with multiple autoimmune diseases. This study investigated the association between these genes and VogtKoyanagiHarada (VKH)...
PURPOSE
The and genes are said to be associated with multiple autoimmune diseases. This study investigated the association between these genes and VogtKoyanagiHarada (VKH) syndrome in Han Chinese.
METHODS
A two-stage case-control study was performed on three single nucleotide polymorphisms ([SNPs] rs4750316, rs11258747, and rs947474) of the gene and three SNPs (rs842647, rs702873, and rs13031237) of the gene using PCR-restriction fragment length polymorphism (PCR-RFLPs) in a total of 859 patients with VKH syndrome and 1,542 healthy controls. Variables such as extraocular presentations were assessed. The data were analyzed using chi-square analysis, and corrected for multiple comparisons with the Bonferroni method.
RESULTS
We found a decreased frequency of the GC genotype and the C allele of rs4750316 in patients with VKH syndrome when the GG genotype or G allele was used as a reference, respectively (GC genotype: =2.45e-10, odds ratio [OR]=0.37, 95% confidence interval [CI]=0.28-0.51; C allele: =8.79e-10, OR=0.41, 95% CI=0.31-0.55). The genotypic and allelic frequencies of rs11258747, rs947474, rs842647, rs702873, and rs13031237 were not statistically significantly different between patients with VKH syndrome and controls. Stratification analysis indicated that the rs4750316 polymorphism was associated with patients with VKH syndrome experiencing headache, alopecia, poliosis, tinnitus, and dysacusia, but no statistically significant association of the other five SNPs was found.
CONCLUSIONS
The rs4750316 polymorphism may be a susceptibility factor for VKH syndrome pathogenesis and extraocular presentations, indicating that may be involved in the pathogenesis and extraocular presentations of VKH syndrome through the T-cell receptor (TCR) signaling pathway.
Topics: Adult; Asian People; Case-Control Studies; Ethnicity; Female; Gene Frequency; Genetic Predisposition to Disease; Humans; Male; Polymorphism, Single Nucleotide; Protein Kinase C-theta; Uveomeningoencephalitic Syndrome
PubMed: 31908401
DOI: No ID Found -
International Journal of Trichology 2022Halo nevus (HN) is benign skin condition with a central melanocytic nevus, surrounded by an area or halo of depigmentation. It is the result of immunological response of...
Halo nevus (HN) is benign skin condition with a central melanocytic nevus, surrounded by an area or halo of depigmentation. It is the result of immunological response of the body toward the nevus, which destroys the melanocytes in surrounding skin, leading to the depigmented halo. An increased frequency of HN in patients with vitiligo is observed. It is more commonly seen in children or young adults of either sex, particularly on the trunk, less commonly on the face, neck, and limbs. We present a rare case of HN which was present on the lower eyelid associated with poliosis, diagnosed with dermatoscopy.
PubMed: 35531486
DOI: 10.4103/ijt.ijt_150_20 -
Saudi Journal of Ophthalmology :... Jul 2013Allogeneic hematopoietic stem cell transplantation (HSCT) has evolved over the past two decades to become the standard of care for hematologic and lymphoid malignancies....
Allogeneic hematopoietic stem cell transplantation (HSCT) has evolved over the past two decades to become the standard of care for hematologic and lymphoid malignancies. Major ocular complications after allogeneic HSCT have been increasing in number and severity. Graft-versus-host disease (GVHD) remains a major cause of ocular morbidity after allogeneic HSCT. The main objective of this review is to elucidate the ocular complications in patients developing GVHD following HSCT. Ocular complications secondary to GVHD are common and include dry eye syndrome, acquisition of ocular allergy from donors with allergic disorders. Eyelid changes may occur in GVHD leading to scleroderma-like changes. Patients may develop poliosis, madarosis, vitiligo, lagophthalmos, and entropion. The cornea may show filamentary keratitis, superficial punctate keratitis, corneal ulcers, and peripheral corneal melting which may lead to perforation in severe cases. Scleritis may also occur which can be anterior or posterior. Keratoconjunctivis sicca appears to be the most common presentation of GVHD. The lacrimal glands may be involved with mononuclear cell infiltration of both the major and accessory lacrimal glands and decrease in tear production. Severe dry eye syndrome in patients with GVHD may develop conjunctival scarring, keratinization, and cicatrization of the conjunctiva. Therapy of GVHD includes systemic immunosuppression and local therapy. Surgical treatment in refractory cases includes surgical intervention to improve the manifestation of GVHD of the eye. This may include tarsorrhapy, prose lenses, punctal occlusions and corneal transplantation.
PubMed: 24227989
DOI: 10.1016/j.sjopt.2013.06.007 -
BMC Ophthalmology Oct 2020East and South East Asian subjects as well as Amerindians and Hispanic subjects are predominantly affected by Vogt-Koyanagi-Harada disease. In Europe, only few studies...
BACKGROUND
East and South East Asian subjects as well as Amerindians and Hispanic subjects are predominantly affected by Vogt-Koyanagi-Harada disease. In Europe, only few studies have described the clinical features and treatment of this disease, especially in France.
METHODS
This retrospective case series was based on data collected from patients with a VKH disease diagnosed from January 2000 to March 2017, provided by three French Tertiary Centers.
RESULTS
Forty-one patients (16 men and 25 women) were diagnosed: average age at diagnosis was 38.7 years. Patients were mainly from Maghreb (58%), but ethnic origins were multiple. Pleiocytosis was observed in 19 cases (63%) and 17 out of 41 patients showed audio vestibular signs (41%), and 11 showed skin signs (27%). Thirty-four were treated with corticosteroids (83%), 11 with an immunosuppressant treatment (27%) and 5 with biological therapy drugs (13%). Relapse was observed in 41% patients, even though final average visual acuity had improved. We did not find any significant clinical difference in the population from Maghreb compared to other populations, but for age and sex trends, since there was a majority of younger women.
CONCLUSION
We report here the second largest French cohort reported to date to our knowledge. The multiethnicity in our study suggests that VKH disease should be evoked whatever patients' ethnicity.
Topics: Female; France; Humans; Immunosuppressive Agents; Male; Retrospective Studies; Uveomeningoencephalitic Syndrome; Visual Acuity
PubMed: 33028239
DOI: 10.1186/s12886-020-01656-x -
Veterinary and Animal Science Dec 2020Low serum level of vitamin D has been linked to numerous diseases. The Akita breed of dog shows a high incidence of immune-mediated diseases such as uveodermatologic...
Low serum level of vitamin D has been linked to numerous diseases. The Akita breed of dog shows a high incidence of immune-mediated diseases such as uveodermatologic (UVD) syndrome and sebaceous adenitis (SA). Furthermore, in Japanese Akita dogs, skin depigmentation often appears after birth at different ages, in healthy dogs, and without any other symptoms. In humans poliosis is associated to low vitamin D level. The aim of this survey was to evaluate serum 25-hydroxyvitamin D (25(OH)D) levels in Japanese Akita dogs. One hundred and three Akita blood samples were collected for the 25(OH)D evaluation. Age, sex, current disease, presence and location of skin depigmentation, and diet were reported on a medical record. Based on history and clinical examination, dogs were classified according their health status as healthy (HE) or pathological (PA). The overall mean of 25(OH)D concentration was 82.42 ± 26.14 ng/mL, whereas the concentrations in the healthy dogs were significantly higher (84.90 ± 3.36 ng/mL) in comparison with the dogs with diseases (72.13 ± 4.09 ng/mL) ( < 0.01). In this study, the depigmented healthy dogs showed low level of 25(OH)D and very similar to the sick group. The appearance of depigmented areas associated with low levels of vitamin D could be considered as an alert sign in Akitas as well as in humans. However, clinical trials should also be carried out to establish whether vitamin D supplementation could be an effective preventive treatment to limit the onset of immune-mediated diseases in Japanese Akita dogs.
PubMed: 32875143
DOI: 10.1016/j.vas.2020.100139 -
Acta Dermato-venereologica Oct 2022
Topics: Child; Humans; Vitiligo; Scalp; Retrospective Studies; Hair Diseases; Hypopigmentation; Pigmentation Disorders
PubMed: 36200508
DOI: 10.2340/actadv.v102.2492 -
Saudi Journal of Ophthalmology :... Jul 2014A 29 year-old healthy Saudi female presented with a 1 week history of headache followed by decreased vision in both eyes. Biomicroscopy revealed anterior uveitis...
A 29 year-old healthy Saudi female presented with a 1 week history of headache followed by decreased vision in both eyes. Biomicroscopy revealed anterior uveitis without hypopyon, posterior synechia or keratic precipitate. Fundus examinations were remarkable for serous retinal detachment and hyperemic discs. Fundus fluorescein angiogram showed a hot disc with multiple pinpoint leakage in both eyes. CT scan and MRI were normal, all uveitis workups were negative. Five months later, the patient presented with complete criteria of Vogt-Koyanagi-Harada disease including a 2 weeks history of tinnitus, alopecia, poliosis and vitiligo. Headache alone followed by decreased vision before the onset of neurological and auditory symptoms can be an initial presentation of VKH disease. VKH should be considered in the differential diagnosis of atypical presentation of symptoms.
PubMed: 25278805
DOI: 10.1016/j.sjopt.2013.10.003 -
Case Reports in Ophthalmology 2019A 43-year-old Japanese woman visited a clinic with a 2-week history of visual loss, hyperemia, and bilateral eye pain. Dilated fundus and optical coherence tomography...
A 43-year-old Japanese woman visited a clinic with a 2-week history of visual loss, hyperemia, and bilateral eye pain. Dilated fundus and optical coherence tomography showed hyperemic optic disc and multifocal serous retinal detachments. Fundus fluorescein angiography revealed optic disc leakage and numerous hyperfluorescent pinpoints of leakage, which are typical of Vogt-Koyanagi-Harada disease (VKHD). She also showed tinnitus, poliosis, and alopecia. With a diagnosis of VKHD, steroid therapy was started. At the age of 48, oral prednisolone was tapered off, and only corticosteroid eye drops were continued. Eighteen months later, dysesthesia appeared in the left side of her face and in her left ring and little fingers, which spread to the ulnar side of her forearm. Blood tests indicated elevated serum angiotensin-converting enzyme (ACE) levels. Chest CT showed bilateral lymphadenopathy, and histological analysis of the subcutaneous mass in her right arm showed multinucleated giant cells. Steroid therapy was started under a diagnosis of sarcoidosis. Serum ACE and lysozyme levels decreased in response to steroid therapy. We report a case of the concurrence of VKHD and sarcoidosis, which may share a common pathophysiology. Accumulation of further similar cases is necessary to elucidate the precise mechanism underlying the concurrence of these two diseases.
PubMed: 31097942
DOI: 10.1159/000496384