| 2020 | Vogt-Koyanagi-Harada disease-like uveitis following nivolumab administration treated with steroid pulse therapy: a case report. | BMC Ophthalmol | Immune checkpoint inhibitors can cause various adverse effects. Recently it has been shown that Vogt-Koyanagi-Harada (VKH) disease-like uveitis can occur in patients treated with nivolumab.A 69-year-old man developed bilateral panuveitis after nivolumab treatment for recurrent hypopharyngeal cancer. Slit lamp examination revealed bilateral granulomatous keratic precipitates, anterior chamber cells and partial synechiae. Fundus examination revealed bilateral optic disc edema and diffuse serous retinal detachment. His human leukocyte antigen (HLA) typing showed HLA-DRB1*04:05 allele. A lumbar puncture did not demonstrate pleocytosis. Bilateral sub-tenon injections of triamcinolone acetonide were initiated. As his panuveitis did not regress completely, steroid pulse therapy was administered. That therapy led to the resolution of his serous retinal detachment and to rapid improvement in his vision. Following this, we treated him with 50 mg/day of prednisolone for 1 week and then reduced it by 5 mg every week. No bilateral uveitis relapse had occurred by his 3-month follow-up; however, he subsequently died because of his cancer.To our knowledge, this is the first report of a patient with NVKH who underwent a lumbar puncture. Unlike VKH, our case did not show meningismus or pleocytosis. NVKH may, therefore, have a different etiology from VKH. In cases of NVKH with posterior uveitis, steroid pulse therapy may be considered as a treatment option, as it is in VKH. |
| 2021 | Headache and Bilateral Optic Disc Edema as the Initial Manifestation of Vogt-Koyanagi-Harada Disease. | J Neuroophthalmol | A 31-year-old healthy Asian man presented with new headaches and blurred vision. He was found to have bilateral optic disc edema (ODE) and peripapillary subretinal fluid and was initially investigated for causes of raised intracranial pressure. After referral to neuro-ophthalmology, he received a diagnosis of Vogt-Koyanagi-Harada (VKH) disease and his symptoms, ODE, and vision improved promptly with prednisone treatment. HLA typing was performed and returned positive for the HLA-DRB1*04 subtype. Although VKH disease usually presents with granulomatous uveitis or serous retinal detachments, ODE may manifest early in the disease course. Those with ODE in VKH disease are believed to be older and female, but this case demonstrates that these findings were also seen in a young man. |
| 2020 | A case-control study of HLA alleles in Brazilian patients with Melkersson-Rosenthal syndrome. | Eur J Med Genet | Melkersson-Rosenthal syndrome (MRS) is a neuromucocutaneous disease that manifests by the triad of recurrent orofacial edema (frequently as cheilitis granulomatosa), relapsing facial paralysis and plicated tongue. The cause of MRS remains unknown, but genetic predisposal and a relationship with inflammatory bowel disease are suspected. The objective of this research was to compare the frequency of class I and II HLA alleles in patients with a confirmed diagnosis of MRS with those of a healthy control group. We conduct a case-control study and typed of HLA A, B, C, DR, and DQ using molecular techniques. The study included 36 patients with MRS and 297 patients in the control group. There was an increase in the expression of HLA A*02 (p = 0.0269; OR: 1,79 [1,045-2,973]), HLA DRB1*11 (p < 0,0001; OR: 4,009 [2,214-7,277]), HLA DRB1*13 (not statistically significant) and HLA DQB1*03 (p = 0,0177; OR: 1,829 [1,122-2,978]) and low levels of HLA A*01 (p = 0.0046; OR: 0,097 [0,009-0,538]), HLA DRB1*04 (p = 0.0274; OR: 0,228 [0,053-0,844]), HLA DRB1*07 (p = 0,0091; OR: 0,183 [0,043-0,670]) and HLA DQB1*02 (p = 0.0051; OR: 0,312 [0,143-0,721]) in MRS patients compared with the control group. Crohn disease (CD) patients had disparate genetic profiles versus those with MRS. This single-institution study had a small cohort, because this disease is rare. Conclusions: There is a genetic predisposition toward MRS, involving associated and protective genes. |
| 2016 | Vogt-Koyanagi-Harada disease: review of a rare autoimmune disease targeting antigens of melanocytes. | Orphanet J Rare Dis | Vogt-Koyanagi-Harada disease (VKHD) is a rare granulomatous inflammatory disease that affects pigmented structures, such as eye, inner ear, meninges, skin and hair. This disease is mainly a Th1 lymphocyte mediated aggression to melanocytes after a viral trigger in the presence of HLA-DRB1*0405 allele. The absence of ocular trauma or previous intraocular surgery sets VKHD appart from sympathetic ophthalmia, its main differential diagnosis. The disease has an acute onset of bilateral blurred vision with hyperemia preceded by flu-like symptoms. The acute uveitic stage is characterized by a diffuse choroiditis with serous retinal detachment and optic disc hyperemia and edema. Fluorescein angiography in this phase demonstrates multiple early hyperfluorescent points. After the acute uveitic stage, ocular and integumentary system pigmentary changes may appear. Ocular findings may be accompanied by lymphocytic meningitis, hearing impairment and/or tinnitus in a variable proportion of patients. Prompt diagnosis followed by early, aggressive and long-term treatment with high-dose corticosteroids is most often ensued by good visual outcomes. However, some patients may experience chronic uveal inflammation with functional eye deterioration. The current review discusses the general features of VKHD, including epidemiology, classification into categories, differential diagnosis and current therapeutic approaches. |
| 2010 | Is remitting seronegative symmetrical synovitis with pitting edema (RS3PE) a subset of rheumatoid arthritis? | Semin Arthritis Rheum | To contrast and compare the spectrum of remitting seronegative symmetrical synovitis with pitting edema (RS3PE) with rheumatoid arthritis (RA) using an illustrative case.The relevant English literature of RS3PE was searched using the keywords "RS3PE" alone and in combination with terms such as neoplasia and rheumatic disease. Original and review articles were reviewed and the clinical setting was exemplified with a case report.RS3PE initially was reported to represent a form of RA. However, RS3PE has clinical features that are different from both early- and late-onset RA, such as lack of bony erosions and rheumatoid factor. RS3PE is thought to involve vascular endothelial growth factor, suggesting an infectious etiology, generally has an excellent prognosis, and is associated with neoplasia not commonly seen in RA, and the RA associated human leukocyte antigen (HLA) DRB1 genotype is absent.Based on the clinical, laboratory, suspected infectious etiology, genetic differences, and types of associated malignancies, RS3PE appears to be a distinct entity rather than a subset of RA. |
| 2007 | Bone edema determined by magnetic resonance imaging reflects severe disease status in patients with early-stage rheumatoid arthritis. | J Rheumatol | To determine the significance of bone edema, detected by magnetic resonance imaging (MRI), in early-stage rheumatoid arthritis (RA).We simultaneously examined serologic variables, MRI of wrist sites and finger joints of both hands, clinical disease activity score (DAS), and HLA-DR typing at entry in 80 patients with early-stage RA.The number of bones scored as positive for bone edema correlated with the number of sites scored as positive for MRI synovitis and MRI bone erosion, rate of enhancement (E-rate), and serum C-reactive protein (CRP), matrix metalloproteinase 3 (MMP-3), and interleukin 6 (IL-6). Findings for MRI synovitis and MRI bone erosion, E-rate, CRP, MMP-3, IL-6, seropositivity, and titer of anti-cyclic citrullinated peptide antibody (anti-CCP antibody), DAS28-CRP and HLA-DRB1*0405 allele carriership, were significantly higher in the positive versus the negative bone edema group.Bone edema based on our scoring system may reflect severe disease status in patients with early-stage RA. However, its clinical value at entry in prognostication of RA should be examined through prospective clinical followup studies. |
| 2003 | Vogt-Koyanagi-Harada syndrome associated with cutaneous malignant melanoma: an 11-year follow-up. | Graefes Arch Clin Exp Ophthalmol | To report a case of Vogt-Koyanagi-Harada (VKH) syndrome associated with cutaneous pigmented malignant melanoma (MM) and non-pigmented nodular metastasis after a 10-year recurrence-free interval.Case report with long-term follow-up of 11 years. Ocular examinations included best-corrected visual acuity (ETDRS charts), fundus photography, fluorescein angiography, and computer-assisted perimetry. In addition, human leukocyte antigen (HLA) typing was performed.A 48-year-old white female patient developed VKH disease 5 years after she had undergone surgical treatment of a superficial spreading melanoma on her back in 1991. The first symptoms were diffuse alopecia followed by growth of non-pigmented hair after 8 months. In our clinic, she presented 18 months later with cells and opacification in the vitreous, a macular and optic disc edema and atrophy of the retinal pigment epithelium (RPE). The anterior segment showed endothelial precipitates of the cornea, and a progressive secondary cataract. Fluorescein angiography detected a bilateral edema of the macula and the optic disc, and focal leakage in the RPE level. During follow-up the patient developed more cutaneous signs, such as vitiligo-like depigmentation and poliosis. A non-pigmented lymph node MM metastasis was diagnosed after a 10-year disease-free interval. HLA typing was positive for HLA-A*01, HLA-A*24, HLA-B*08, HLA-B*39, HLA-DRB1*03, and HLADRB1*11.Our findings suggest that the described ocular findings of VKH disease may represent a component of a syndrome consisting also of melanoma-associated hypopigmentation. Within the framework of current concepts of immunity in patients with MM and VKH, the long recurrence-free interval might support the hypothesis of an autoimmune or hypersensitivity process against melanocytes. The use of immunosuppressive therapy in the treatment of VKH and its potential influence on the development of metastatic disease should be carefully reconsidered. |
| 2002 | Tubulointerstitial nephritis and uveitis syndrome in Southern Spain. | Semin Arthritis Rheum | To examine immunogenetic and clinical features in a series of patients with the idiopathic tubulointerstitial nephritis and uveitis (TINU) syndrome diagnosed at the single referral hospital for a defined population in Southern Spain.Retrospective study of the case records of all patients diagnosed with the TINU syndrome in the Departments of Ophthalmology and Medicine of the Valme University Hospital (Seville, Spain) from January 1996 through October 2000. Patients were included in this study if they had a renal biopsy showing interstitial edema and infiltration by lymphocytes, plasma cells, macrophages, eosinophils, and neutrophils. In these cases fibrosis was occasionally seen, but no glomerular changes were found. In addition, a diagnosis of uveitis by expert ophthalmologists was always required. Underlying diseases, which might be responsible for the renal or ocular manifestations, were excluded. Patients were HLA-DRB1 genotyped from DNA by using molecular-based methods.Six patients (4 females) fulfilled the definitions described above. Four were younger than 18 years. In addition to tubulointerstitial nephritis, non-granulomatous uveitis (anterior or panuveitis) associated with low visual acuity was present at the time of diagnosis. Leukocytosis and increase of acute phase reactants were also commonly observed at the time of diagnosis. Topical and oral corticosteroids were prescribed to all the patients. Cyclosporine A therapy was required in 2 cases. After a 2.5-year median follow-up, visual acuity had improved in all cases. Of note, 4 of 6 patients carried the HLA-DRB1*01 allele.The TINU syndrome should be considered in the differential diagnosis of patients presenting with visual and renal manifestations. The presence of renal dysfunction in patients with uveitis may be of some help, as a warning sign, for the recognition of patients who require a rapid diagnosis and therapy. In Southern Spain, the TINU syndrome appears to be associated with HLA-DRB1*01 allele. |