-
Annals of Indian Academy of Neurology 2021Vogt-Koyanagi-Harada (VKH) syndrome is an immune-mediated granulomatous disease which affects melanin-rich organs like eyes, skin, nervous system, and ears. Neurological...
Vogt-Koyanagi-Harada (VKH) syndrome is an immune-mediated granulomatous disease which affects melanin-rich organs like eyes, skin, nervous system, and ears. Neurological and auditory manifestations usually precede the involvement of other sites. Patients may manifest with "complete" or "incomplete" syndrome. We report two patients who presented with acute headache and impaired vision. Fundus examination revealed optic disc hyperemia and exudative retinal detachment which provided a clue for the diagnosis at the bedside. Fundus fluorescein angiogram (FFA) revealed abnormal dye leakage, whereas B scan showed choroid thickening. Cerebrospinal fluid (CSF) pleocytosis contrasted with unremarkable brain magnetic resonance imaging and lack of meningeal signs. Melanophagocytosis was evidenced by melanin-laden macrophages in CSF and skin biopsy. This finding is specific for VKH syndrome and helps to clinch the diagnosis even when the complete syndrome is not present cross-sectionally. VKH syndrome should be suspected in patients with aseptic meningitis if tests for common infectious and immune-mediated diseases are negative.
PubMed: 34447006
DOI: 10.4103/aian.AIAN_405_20 -
Clinical Ophthalmology (Auckland, N.Z.) 2015We investigated the incidence of prostaglandin-associated periorbitopathy (PAP) in subjects with glaucoma treated with latanoprost ophthalmic solution.
PURPOSE
We investigated the incidence of prostaglandin-associated periorbitopathy (PAP) in subjects with glaucoma treated with latanoprost ophthalmic solution.
SUBJECTS AND METHODS
One eye and the forehead in 22 subjects were evaluated. All patients had used latanoprost for more than 1 year (range, 12 to 45 months; mean, 26.0 months) and were prostaglandin F2α analogue treatment-naïve. Digital photographs of the subjects obtained before latanoprost therapy and at the last examination were compared retrospectively. Four signs of PAP (deepening of the upper eyelid sulcus (DUES), upper eyelid ptosis, flattening of the lower eyelid bags, and inferior scleral show) and supplemental side effects around the eyelids (eyelash growth, poliosis, and eyelid pigmentation) were judged to be negative or positive by three independent observers. If the observers unanimously rated a sign as positive, the result was defined as positive.
RESULTS
Twelve subjects (54.5%) had no apparent signs. Three subjects were judged to have DUES (13.6%), and two subjects each were judged to have flattening of the lower eyelid bags and eyelid pigmentation (9.0%). The other signs were judged as positive in only one subject each, respectively (4.5%). A univariate logistic regression analysis showed no significant associations between any of the signs and age, sex, or the duration of therapy.
CONCLUSION
Latanoprost induced DUES, upper eyelid ptosis, flattening of the lower eyelid bags, inferior scleral show, and supplemental side effects around the eyelids; however, the rates of such occurrence might be relatively low.
PubMed: 25565768
DOI: 10.2147/OPTH.S75651 -
Journal of Clinical Medicine Jul 2021Immunotherapy with checkpoint inhibitors significantly improves the outcome for stage III and IV melanoma. Cutaneous adverse events during treatment are often reported.... (Review)
Review
Immunotherapy with checkpoint inhibitors significantly improves the outcome for stage III and IV melanoma. Cutaneous adverse events during treatment are often reported. We herein aim to review the principal pigmentation changes induced by immune check-point inhibitors: the appearance of vitiligo, the Sutton phenomenon, melanosis and hair and nail toxicities.
PubMed: 34300213
DOI: 10.3390/jcm10143047 -
Arquivos Brasileiros de Oftalmologia 2010Byproducts of 4-aminoquinolones are being used since its industrialization in the treatment of malaria, rheumatic and dermatologic diseases. These drugs present systemic... (Review)
Review
INTRODUCTION
Byproducts of 4-aminoquinolones are being used since its industrialization in the treatment of malaria, rheumatic and dermatologic diseases. These drugs present systemic and ocular adverse events. Systemic adverse reactions affect the gastrointestinal, nervous and skeletal muscular systems and the skin. Ocular adverse reactions are: photophobia, cornea verticillata, poliosis, cataract, extraocular muscle palsy, anterior uveitis, toxic maculopathy and optical neuritis.
PURPOSE
Bibliography review of complications due to the use of chloroquine and its derivatives. To analyze the current practice and propedeutics' evolution. To suggest practical managements for early toxicity signs.
METHODS
Bibliographic review through research on MEDLINE, PUBMED, LILACS and SciELO database.
DISCUSSION
All exams that can be used to screen ocular adverse reactions are described, such as: complete ophthalmologic exam, with emphasis on biomicroscopy and indirect binocular ophthalmoscopy, computerized visual field, Amsler grid testing and color vision testing, electrophysiological exams, polarimetry and optical coherence tomography. A description of maculopathy is presented, focusing on epidemiology, risk factors, histopathology and propedeutics. Chemical structure and the differences between 4-aminoquinolone derivatives are described.
CONCLUSION
All patients using chloroquine and its derivatives must be followed-up and documented since the beginning of the therapy until they reach a cumulative dose above 100 grams. The higher the cumulative dose, the more we must be concerned with patient follow-up.
Topics: Antimalarials; Antirheumatic Agents; Chloroquine; Humans; Macular Degeneration; Retina; Risk Factors
PubMed: 20944948
DOI: 10.1590/s0004-27492010000400019 -
The Pan African Medical Journal 2017Piebaldism is a rare autosomal dominant genodermatosis. It is due to congenital absence of melanocytes in the affected areas. We report a case. A 5 year old girl born to...
Piebaldism is a rare autosomal dominant genodermatosis. It is due to congenital absence of melanocytes in the affected areas. We report a case. A 5 year old girl born to consanguineous parents and with similar cases in her mother's; she presented since birth achromic lesions on the legs with a steady evolution. clinical examination showed confluent achromic macules and poliosis (A) with no contrast enhancement under Wood lamp and several coffee-with-milk colored spots on the trunk and thighs(B). The diagnosis of piebaldism was made. Piebaldism is a rare genodermatosis. Its incidence is estimated at less than 1/20000 newborns. It is characterized by the congenital absence of melanocytes in the areas affected by mutation of the c-kit gene and by symmetrical achromic macules appeared at birth with a steady and persistent evolution. A white lock of hair on the forehead could be seen in 80% of cases The differential diagnosis includes vitiligo, albinism and Waardenburg syndrome. Associations have been described with neurofibromatosis type I. However, isolated coffee-with-milk colored spots can be observed; as the case of our patient. The treatment is based on split-thickness skin graft. Piebaldism is a rare genodermatosis. This study aims to discuss its clinical aspects and differential diagnoses.
Topics: Child, Preschool; Diagnosis, Differential; Female; Humans; Melanocytes; Mutation; Piebaldism; Proto-Oncogene Proteins c-kit
PubMed: 28979623
DOI: 10.11604/pamj.2017.27.221.4961 -
Journal of Vitreoretinal Diseases 2023To present a case of retinal vascular disease characterized primarily by capillary nonperfusion in an adult with Coats plus syndrome (CPS). : A case and its findings...
To present a case of retinal vascular disease characterized primarily by capillary nonperfusion in an adult with Coats plus syndrome (CPS). : A case and its findings were analyzed. : A 38-year-old woman with a history of poliosis, thrombocytopenia, seizures, and white-matter brain lesions was referred for evaluation of bilateral blurred central vision. Fluorescein angiography showed extensive bilateral retinal capillary nonperfusion with retinal arteriolitis in the right eye. Genetic testing found 2 pathological mutations in the conserved telomere maintenance component 1 () gene, diagnostic of CPS. : Genetic testing may be diagnostic in patients who present with retinal vascular disease and systemic disease suggestive of CPS.
PubMed: 37974921
DOI: 10.1177/24741264231171465 -
International Medical Case Reports... 2016Vogt-Koyanagi-Harada's (VKH) disease has been reported to be rare in sub-Saharan Africa. Two Nigerians with the disease are presented in this report. The first patient,...
Vogt-Koyanagi-Harada's (VKH) disease has been reported to be rare in sub-Saharan Africa. Two Nigerians with the disease are presented in this report. The first patient, a 32-year-old pregnant Nigerian woman presented with a 1-month history of bilateral blurring of vision, persistent headache, and alopecia. Presenting visual acuity was 1 m counting fingers in both eyes. Examination revealed vitiligo and poliosis with bilateral panuveitis as well as bilateral exudative retinal detachment. A clinical assessment of complete VKH disease was made. The patient commenced systemic and topical steroids that resulted in remarkable recovery of vision and control of inflammation. The second patient, a 56-year-old Nigerian woman presented with severe headache, tinnitus, and visual loss in both eyes of 2 weeks duration. There was associated redness of both eyes and photophobia. Examination showed visual acuity of Hand motion (HM) and counting fingers at 1 meter (CF). in the right and left eye, respectively, with bilateral panuveitis and bilateral exudative retinal detachment. Subsequent follow-up showed poliosis, vitiligo, and sunsetting fundus appearance. The patient improved with systemic and topical corticosteroids. Developing a high index of suspicion is necessary in diagnosing VKH disease, even in sub-Saharan Africa. Prompt institution of appropriate treatment prevents blindness.
PubMed: 27932898
DOI: 10.2147/IMCRJ.S106248 -
Saudi Journal of Ophthalmology :... 2016Vernal keratoconjunctivitis (VKC) is a chronic allergic inflammation of ocular surface involving the tarsal and/or bulbar conjunctiva. Signs of VKC are confined to the...
Vernal keratoconjunctivitis (VKC) is a chronic allergic inflammation of ocular surface involving the tarsal and/or bulbar conjunctiva. Signs of VKC are confined to the conjunctiva and cornea. The skin of the lid remains uninvolved. Here we report a case of 17 year-old male suffering from VKC who develops vitiligo of lid skin and lash poliosis. All ocular and systemic causes of localized skin and lash depigmentation were excluded in our patient by thorough clinical examination and investigations. During regular follow-up for two-year patient did not develop any ocular and systemic illness presenting as vitiligo and poliosis. We believe that VKC was the most possible etiology of Vitiligo of lid and lash poliosis in this patient.
PubMed: 27330391
DOI: 10.1016/j.sjopt.2015.12.006 -
Journal of Bone and Mineral Metabolism Jan 2018Split hand/foot malformation (SHFM) and SHFM combined with long-bone deficiency (SHFLD) are congenital dysgeneses of the limb. Although six different loci/mutations...
Split hand/foot malformation (SHFM) and SHFM combined with long-bone deficiency (SHFLD) are congenital dysgeneses of the limb. Although six different loci/mutations (SHFM1-SHFM6) have been found from studies on families with SHFM, the causes and associated pathogenic mechanisms for a large number of patients remain unidentified. On the basis of the identification of a duplicated gene region involving BHLHA9 in some affected families, BHLHA9 was identified as a novel SHFM/SHFLD-related gene. Although Bhlha9 is predicted to participate in limb development as a transcription factor, its precise function is unclear. Therefore, to study its physiological function, we generated a Bhlha9-knockout mouse and investigated gene expression and the associated phenotype in the limb bud. Bhlha9-knockout mice showed syndactyly and poliosis in the limb. Moreover, some apical ectodermal ridge (AER) formation related genes, including Trp63, exhibited an aberrant expression pattern in the limb bud of Bhlha9-knockout mice; TP63 (Trp63) was regulated by Bhlha9 on the basis of in vitro analysis. These observations suggest that Bhlha9 regulates AER formation during limb/finger development by regulating the expression of some AER-formation-related genes and abnormal expression of Bhlha9 leads to SHFM and SHFLD via dysregulation of AER formation and associated gene expression.
Topics: Animals; Basic Helix-Loop-Helix Transcription Factors; Ectoderm; Extremities; Fibroblast Growth Factor 8; Gene Expression Regulation, Developmental; HeLa Cells; Humans; Mice, Inbred C57BL; Mice, Knockout; Phenotype; Phosphoproteins; Trans-Activators
PubMed: 28324176
DOI: 10.1007/s00774-017-0820-0 -
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