Tomographic features of serous retinal detachment in vogt. Vogtkoyanagiharada syndrome is a cause of noninfectious. Melanocytes are specialized cells that produce a pigment called melanin. Voltkoyanagiharadas disease, better known as vkhlike syndrome vkh is an autoimmune disease, named after drs. The strong association between vkh disease and certain ethnic groups suggests that genetic factors may be involved. It is an autoimmune disease occurring in genetically susceptible individuals and clinically presents as bilateral panuveitis with serous retinal detachments and hyperemic, swollen optic discs, which are associated with neurological and auditory manifestations. Positron emission tomographycomputed tomography scan of. A successful surgical treatment vitrectomy for bilateral bullous retinal detachment in a patient with vogtkoyanagiharada vkh. The relevant high resolution tif file is attached to the author proof. Vogtkoyanagiharada syndrome associated to hypothyroidism. Vogtkoyanagiharada vkh disease is a multisystem autoimmune inflammatory disorder with ocular, auditory, skin and neurologic involvement.
It accounts for about 8% to % of total uveitis patients in eastern asian. Vogtkoyanagiharada disease vkh is a visually disabling bilateral intraocular inflammation usually associated with extraocular manifestations such as meningismus, vitiligo, poliosis, and dysacusis. Full text vogtkoyanagiharada syndrome current perspectives. Gard maintains a list of rare diseases and related terms to help people find reliable information. All structured data from the file and property namespaces is available under the creative commons cc0 license. Full text full text is available as a scanned copy of the original print version. Frequency of distinguishing clinical features in vogt. Protein tyrosine phosphatase nonreceptor 22 ptpn22 is a key negative regulator of t lymphocytes and has emerged as an important candidate susceptibility factor for a number of immunerelated diseases. Vogtkoyanagiharada vkh syndrome is usually treated with highdose systemic corticosteroids. Vkh may variably also involve the inner ear, with effects on hearing, the skin and the meninges of the central nervous system. Vogtkoyanagiharada vkh disease is a common cause of panuveitis involving both eyes among darkly pigmented races.
These inflammatory aspects seem to be attributed to the destruction of melanocytes through immunological mechanisms. Association of vkh syndrome and autoimmune thyroiditis is uncommon. Autoimmune diseases affecting skin melanocytes in dogs. The granulomatous inflammation affects different tissues in the body, the common characteristic of which is the presence of melanocytes 1. A suggested practical diagnostic approach to vkh disease, taking into account the chronological phase of the disease may be helpful box 2. Even when the symptoms of vkh disease get better with steroid therapy, many people need to slowly decrease the dose.
Vogtkoyanagiharada vkh disease is a multisystemic disorder characterized by granulomatous panuveitis with exudative retinal detachments that is often associated with neurologic and cutaneous manifestations. Japanese, hispanics, indians, and native americans. Herein we report the case of a female patient who was diagnosed with severe flare of crohns disease. Alopecia in vogtkoyanagiharada syndrome, journal of the. Vogtkoyanagiharada disease genetic and rare diseases. Vogtkoyanagiharada disease vkhd, initially described as an uveomeningoencephalitic syndrome, is a systemic granulomatous autoimmune disease that targets melanocyterich tissues, such as the eye, inner ear, meninges, skin and hair. The most significant manifestation is bilateral, diffuse uveitis, which affects the eyes. Management of vogtkoyanagiharada vkh disease may involve various specialists including dermatologists, ophthalmologists, and neurologists.
We describe a 28yearold man with presumed vkh syndrome, whose presenting symptoms were bilateral impaired. Reimbursement for acthar gel may differ based on the patients health insurance plan. Aims considering the phenotypical consequences and association of c4 copy number variation cnv with various autoimmune diseases, we aimed to examine c4 cnvs for 1027 patients with vogtkoyanagiharada vkh syndrome and 2083 controls. Eighteen months later, while vkh syndrome was in remission and visual acuity had reached light perception right eye and 0. A functional variant of ptpn22 confers risk for vogt. Early diagnosis of acute, purely ocular vkh disease is crucial for prompt initiation of corticosteroid treatment to ensure a good visual outcome and to prevent chronicrecurrent inflammation and. Vitigilio alone or uveodermatological syndrome vkh loss of pigment, ulcers. We describe a 20yearold britishhonduran man with recent worsening headache and photophobia, vomiting and visual blurring.
Vkh causes nonviral meningitis by swelling the lining of the brain and spinal cord called the meningis. The exact cause of vogtkoyanagiharada vkh disease is not well understood, but research suggests it is an autoimmune disease in which the body attacks its own pigment cells melanocytes, possibly in response to an infection such as a virus. Ophthalmic surgery, lasers and imaging retina abstract. They will usually happen at night, are extremely severe, extremely painfull and seem to last for days and as soon as its gone it comes back. The aim of the study was to replicate the association of il23rc1orf141 and adoznf365egr2 with vkh syndrome in four sets of. Three cases of vkh syndrome occurring in association with ulcerative colitis have been described in the literature. Files are available under licenses specified on their description page. Vogtkoyanagiharada syndrome in dogs symptoms, causes. The clinical presentation and diagnosis of vogtkoyanagi. In the united states, a rare disease is defined as one that affects fewer than 200,000 people. Treatment with systemic corticosteroids resulted in improvement of uveitis. Vogtkoyanagiharada disease vkhd is a rare granulomatous inflammatory disease that affects pigmented structures, such as eye, inner ear, meninges, skin and hair. Vogtkoyanagiharada vkh syndrome is characterized by bilateral panuveitis with serous retinal detachments and a variety of extraocular signs and symptoms.
It is a granulomatous inflammatory disorder that affects the eyes, auditory system, meninges, skin and often presents. Our patient presented a complete form of vkh syndrome according to the 1978 american uveitis society criteria revised by the international workshop on vkh syndrome in 1999. Diseases genetic and rare diseases information center. Phospholipase a2 receptor and sarcoidosisassociated. Melanocytes are the cells common to the four affected tissues, namely eye, brain, inner ear, and skin. Plan the therapeutic approach according to clinical stage and use. In 1906, alfred vogt in switzerland first described a patient with premature whitening of eyelashes of sudden onset and bilateral subacute. Inclusion in gards list does not serve as official recognition by the. Vogtkoyanagiharada vkh syndrome is usually defined as an uveomeningitis who may be associated with auditory and cutaneous signs. Panel a of the figure 1 may be used for the graphical table of contents. Introduction sympathetic ophthalmia is defined as a bilateral diffuse, granulomatous panuveitis that occurs after the uvea of one eye is subjected to a penetrating injury due to either accidental trauma or surgery. Get a printable copy pdf file of the complete article 1.
The absence of ocular trauma or previous intraocular surgery sets vkhd appart. Vkh disease occurs more commonly in patients with a genetic predisposition to the disease, including those from asian, middle eastern. The acute phase of vkh disease is characterized by diffuse choroidal inflammation and serous retinal detachment in the posterior pole. The signs and symptoms of vkh disease are caused by chronic inflammation of melanocytes. The acute stage of vkh is followed by the convalescent stage of the disease, and the latter is characterized by resolution of retinal detachments with disappearance of cells in the anterior chamber and. Typical clinical manifestations of vkh syndrome moorthy rs et al. In veterinary medicine, vitiligo and the uveodermatological syndrome are the two autoimmune diseases that are known to affect skin melanocytes.
Comparison of clinical features and visual outcome between. Vitreous surgery for bilateral bullous retinal detachment. Diagnosis of vogtkoyanagiharada syndrome in dogs in addition to a physical exam where the veterinarian may check your dogs temperature, pulse and blood pressure, he will perform an ocular exam, which may include a pupillary light reflex test. High c4 gene copy numbers protects against vogtkoyanagi. Vogtkoyanagiharada vkh syndrome is a systemic condition characterized by ocular inflammatory disease as well as skin, ear, and meningeal manifestations. Vkh disease occurs more commonly in patients with a genetic predisposition to the disease, including those from asian, middle eastern, hispanic, and native american populations. A case of insulin dependent diabetes mellitus following. Traf5 and traf3ip2 have been reported to be associated with several autoimmune diseases. Treatment of vogtkoyanagiharada syndrome in pregnancy. Tnfaip3 gene polymorphisms in a chinese han population. The clinical presentation and diagnosis of vogtkoyanagiharada syndrome cases and elective reports v ogt koyanagiharada syndrome vkh is a rare systemic disease 1. Absence of recognition of common melanocytic antigens by t. Perform differential diagnoses of vkh syndrome and use ancillary tests to exclude them.
Full clinical exam and ivfa imaging confirmed vkh diagnosis this case is based on a single patient and is not representative of the overall patient population. A diagnosis of vogtkoyanagiharada vkh syndrome was made based on clinical features. Sensorineural hearing loss in vogtkoyanagiharada syndrome. Vogtkoyanagiharada disease vkh is a multisystem disease of presumed autoimmune cause that affects pigmented tissues, which have melanin. This disease is mainly a th1 lymphocyte mediated aggression to melanocytes after a viral trigger in the presence of hladrb10405 allele. However, in a pregnant patient with vkh syndrome, the effects of highdose corticosteroids on the. To our knowledge, this is the first case of vkh syndrome in a patient with ms to be published. Mortimer house, 37 41 mortimer street, london w1t 3jh, uk seminars in.
Experts agree that successful therapy for vkh disease involves early and aggressive treatment with systemic corticosteroids steroids. Uveomeningoencephalitic syndrome vogt koyanagiharanda vkh is an unusual syndrome with important neurological complications and has not, to my knowledge, been discussed in english in the neurological literature. Vogtkoyanagiharada syndrome is a cause of noninfectious panuveitis, leading to significant vision loss in many patients. A case of vogtkoyanagiharada syndrome with persistent. Cnas is defined as gain or loss of chromosomal segments in somatic cells within a single. Methylprednisolone iv 40 mgday for 3 days followed by prednisone p.
A 28yearold man was admitted with thoracic pain due to myocarditis. Background we performed a multistage genomewide association study of vogtkoyanagiharada vkh syndrome in a han chinese population and identified two novel nonhuman leukocyte antigen candidate regions previously. Methods c4 cnvs were examined by realtime pcr for 1027 patients with vkh and 2083 controls. Vogtkoyanagiharada disease is a rare, multisystem, autoimmune disorder with numerous clinical manifestations, mediated through a thelper 1 response against melanocytes in the eye, inner ear, central nervous system, hair and skin. Investigation of the association of vogtkoyanagiharada.
Pdf vogtkoyanagiharada syndrome is a bilateral, chronic, diffuse. Get a printable copy pdf file of the complete article 765k, or click on a page image below to browse page by page. Pdf a u g u s t 3 1, 2 0 1 0 v o l u m e 9 n u m b e r 1 6 contemporary vogtkoyanagiharada vkh syndrome is a multisystemic immune disorder. The vogtkoyanagiharada vkh syndrome is an autoimmune systemic disease of unknown etiology characterized by recurrent episodes of nonnecrotizing bilateral panuveitis.
The prevalence of a rare disease usually is an estimate and may change over time. In 1906, alfred vogt in switzerland first described a patient with premature whitening of eyelashes of sudden onset and bilateral subacute iridocyclitis. Vogtkoyanagiharada vkh syndrome is an autoimmune disease characterized by inaugural uveomeningitidis and hearing loss and at late stages a depigmentation in eyes and skin. Autoimmune dermatoses targeting melanocytes have gained attention in human medicine due to their progressive nature and the social impact suffered by affected individuals. Vogtkoyanagiharada disease vkh disease is a disease that affects several parts of the body, including the eyes, ears, nervous system, and skin. Melanin is the substance that gives skin, hair, and eyes their color. Comparison of the optical coherence tomographic characters. Two years ago he presented vkh syndrome with specific ocular manifestation and deafness, treated by. This is a rare syndrome most commonly affecting orientals esp.
Zhao m, jiang y, abrahams iw 1991 association of hla antigens with vogtkoyanagiharada syndrome in a han chinese population. Traf5 and traf3ip2 gene polymorphisms are associated with. Vkh syndrome is an apparently rare autoimmune systemic disorder. Mr imaging of vogtkoyanagiharada syndrome with leptomeningeal enhancement mr imaging of vogtkoyanagiharada syndrome with leptomeningeal enhancement lohman, b. The initial diagnosis of vkh syndrome would not have been possible, if the. Vogtkoyanagiharada vkh syndrome is a rare disease and could be associated with autoimmune thyroid disease aitd. Originally, it was described as two separate diseases, vogtkoyanagi syndrome and harada syndrome, but they overlap in so many respects that they are now combined as. Vogtkoyanagiharada disease and sympathetic ophthalmia. This study aimed to examine the predisposition of ptpn22 snps to vogtkoyanagiharada vkh syndrome and acute anterior uveitis aau associated with ankylosing spondylitis as.
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