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Dermatology Practical & Conceptual Feb 2022
PubMed: 35223184
DOI: 10.5826/dpc.1201a40 -
Clinical & Experimental Optometry Apr 2023
Topics: Humans; Uveomeningoencephalitic Syndrome; Pigmentation Disorders
PubMed: 35068374
DOI: 10.1080/08164622.2022.2029681 -
Frontiers in Medicine 2021Uveitis associated with Vogt-Koyanagi-Harada (VKH) disease is a bilateral, chronic, granulomatous autoimmune disease associated with vitiligo, poliosis, alopecia, and... (Review)
Review
Uveitis associated with Vogt-Koyanagi-Harada (VKH) disease is a bilateral, chronic, granulomatous autoimmune disease associated with vitiligo, poliosis, alopecia, and meningeal and auditory manifestations. The disease affects pigmented races with a predisposing genetic background. Evidence has been provided that the clinical manifestations are caused by a T-lymphocyte-mediated autoimmune response directed against antigens associated with melanocytes in the target organs. Alongside of T lymphocytes, autoreactive B cells play a central role in the development and propagation of several autoimmune diseases. The potential role of B lymphocytes in the pathogenesis of granulomatous uveitis associated with VKH disease is exemplified within several studies. The early initial-onset acute uveitic phase typically exhibits granulomatous choroiditis with secondary exudative retinal detachment and optic disc hyperemia and swelling, subsequently involving the anterior segment if not adequately treated. The disease eventually progresses to chronic recurrent granulomatous anterior uveitis with progressive posterior segment depigmentation resulting in "sunset glow fundus" appearance and chorioretinal atrophy if not properly controlled. Chronically evolving disease is more refractory to treatment and, consequently, vision-threatening complications have been recognized to occur in the chronic recurrent phase of the disease. Conventional treatment with early high-dose systemic corticosteroids is not sufficient to prevent chronic evolution. Addition of immunomodulatory therapy with mycophenolate mofetil as first-line therapy combined with systemic corticosteroids in patients with acute initial-onset disease prevents progression to chronic evolution, late complications, vitiligo, and poliosis. Furthermore, patients under such combined therapy were able to discontinue treatment without relapse of inflammation. These findings suggest that there is a therapeutic window of opportunity for highly successful treatment during the early initial-onset acute uveitic phases, likely because the underlying disease process is not fully matured. It is hypothesized that early and aggressive immunosuppressive therapy will prevent remnant epitope generation in the initiation of the autoimmune process, the so-called primary response. B cell depleting therapy with the anti-CD20 monoclonal antibody rituximab is effective in patients with refractory chronic recurrent granulomatous uveitis. The good response after rituximab therapy reinforces the idea of an important role of B cells in the pathogenesis or progression of chronic recurrent uveitis associated with VKH disease.
PubMed: 34869409
DOI: 10.3389/fmed.2021.705796 -
Ophthalmic Genetics Feb 2022Chromosome 4q deletions are rare disorders phenotypically characterized by several features. The most commonly described ocular abnormalities include unilateral...
BACKGROUND
Chromosome 4q deletions are rare disorders phenotypically characterized by several features. The most commonly described ocular abnormalities include unilateral microphthalmia with bilateral colobomata, blue sclerae with pigmented retinal clumps, hypermetropia, and a divergent squint.
PURPOSE
To report a case of 4q12 deletion with a singular retinal feature.
MATERIALS AND METHODS
Case report.
RESULTS
A 20-year-old Caucasian female with a history of poliosis, progressive appearance of small areas of skin depigmentation along trunk and limbs since birth and diagnosis of learning deficit was referred for a complete ocular examination. The genetic counseling showed microdeletion in the 4q12 region. An audiometric test was performed, showing a progressive bilateral neurosensorial hypoacusia. Ocular examination showed the presence of multifocal, tiny, whitish deposits in the posterior pole. Multimodal imaging defined the lesions as small elevations of the retinal pigment epithelium with slight hyper-autofluorescence and staining in the late phase of fluoresceine angiography (FA). Visual acuity was 20/20. The retinal findings did not change during the three-month follow-up.
CONCLUSIONS
Although the findings herein reported have never been described before in patients affected by 4q12 mutations, we do not exclude that they could represent a manifestation of the peculiar genetic asset of the patient, related to dysfunction in pigment epithelium/neuroretinal metabolic activity.
Topics: Adult; Chromosome Deletion; Female; Fluorescein Angiography; Humans; Multimodal Imaging; Retina; Retinal Pigment Epithelium; Tomography, Optical Coherence; Visual Acuity; Young Adult
PubMed: 34551660
DOI: 10.1080/13816810.2021.1978102 -
Optometry and Vision Science : Official... Nov 2021The emergence of new cancer therapies has dramatically improved outcomes in metastatic melanoma. Immune checkpoint inhibitors have been the most effective treatment....
SIGNIFICANCE
The emergence of new cancer therapies has dramatically improved outcomes in metastatic melanoma. Immune checkpoint inhibitors have been the most effective treatment. Although, as a direct consequence of the immune dysregulation induced by them, adverse effects termed immune-related adverse events are observed in more than 60% of the patients.
PURPOSE
We describe the clinical presentation of Vogt-Koyanagi-Harada-like syndrome in a patient with concomitant systemic melanoma treatment with ipilimumab, a cytotoxic T lymphocyte-associated antigen 4 blocker.
METHODS
This study aimed to report a case of ipilimumab-induced vitritis, papillitis, and skin and auditory signs suggestive of Vogt-Koyanagi-Harada-like syndrome.
CASE REPORT
A 64-year-old woman with metastatic melanoma presented with bilateral blurred vision and hearing loss upon completion of three cycles of treatment with ipilimumab. Ophthalmologic examination revealed a bilateral granulomatous uveitis with intense vitritis and papillitis. The result of optical coherence tomography was normal, and fluorescein angiography confirmed the bilateral papillary edema. Ipilimumab was withdrawn, and treatment with oral and systemic steroids led to a rapid improvement in the ophthalmologic and auditory manifestations. Three months after initial presentation, the patient developed vitiligo and poliosis.
CONCLUSIONS
Vogt-Koyanagi-Harada-like syndrome can develop in the process of immunological deregulation by ipilimumab in the treatment of metastatic melanoma and can correlate temporally with the efficacy of the drug in tumor regression. These observations may help elucidate the underlying mechanism of Vogt-Koyanagi-Harada syndrome as well as the relation between tumor-associated tolerance and autoimmunity.
Topics: Female; Fluorescein Angiography; Humans; Ipilimumab; Melanoma; Middle Aged; Uveomeningoencephalitic Syndrome
PubMed: 34510146
DOI: 10.1097/OPX.0000000000001798 -
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 -
Melanoma Research Dec 2021We present two patients with stage IV melanoma, the first with BRAF wild-type melanoma with multiple visceral metastases treated with immunotherapy (pembrolizumab) and...
We present two patients with stage IV melanoma, the first with BRAF wild-type melanoma with multiple visceral metastases treated with immunotherapy (pembrolizumab) and the second with BRAFV600E melanoma with subcutaneous and lymph nodes metastasis treated with BRAF and MEK-inhibitors (dabrafenib/trametinib). Already after the second cycle of immunotherapy, the first patient developed a diffuse regression of nevi, perceptible only with the use of dermoscopy and 3 months later a clinically evident poliosis of the eyebrows. The second patient, treated with dabrafenib/trametinib, developed small areas of leukoderma on his chest and white halos around nevi with a dermoscopic globular or structureless pattern. Both observations are suggestive for an immune reaction against melanocytic cells, which is further supported by the complete response to systemic therapy in both patients. It has been demonstrated that the development of vitiligo-like depigmentation during immunotherapy is associated with a better prognosis; in our patient, the phenomenon of poliosis appeared much later than the dermoscopic presence of regression among his nevi, suggesting that the latter may be an early sign (along with vitiligo-like phenomena) of good response to immunotherapy. On the other hand, the development of halo nevi and leukoderma during treatment with BRAF/MEK-inhibitors, suggests that not only immunotherapy but also targeted therapy may induce an immunologic response against melanoma and nevi, again indicative of a favorable prognosis. More data are needed to confirm these findings; however, they indicate that dermatologists should be involved in the follow-up of patients with melanoma, both in studies and clinical practice.
Topics: Aged; Humans; Hypopigmentation; Immunotherapy; Male; Melanoma; Middle Aged; Neoplasm Staging; Nevus; Skin Neoplasms; Vitiligo
PubMed: 34433200
DOI: 10.1097/CMR.0000000000000776 -
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 -
West African Journal of Medicine Jun 2021Vitiligo is an acquired progressive melanocytopenia of unknown cause. It manifests clinically as well circumscribed depigmented macules and patches often associated with...
BACKGROUND
Vitiligo is an acquired progressive melanocytopenia of unknown cause. It manifests clinically as well circumscribed depigmented macules and patches often associated with poliosis. AIM: To determine the pattern of presentation of patients with vitiligo in the University of Benin Teaching Hospital, Benin City, Nigeria.
MATERIALS AND METHODS
Records of patients managed for vitiligo over a 5-year period between December 2014- December 2019 were retrieved and the following information extracted: socio-demographic data of patients, duration of symptom, pattern of vitiligo, distribution, and percentage body surface area of affectation. SPSS version 21 was used to tabulate and analyze the data. The continuous data were presented as means and categorical variables were presented as frequencies and percentages.
RESULTS
There were 52 patients with vitiligo amongst 1600 new cases seen over the 5year period constituting a prevalence of 3.3%. The male to female ratio was 1:1.1. The Median (IQR) of the age at presentation was 29.5 (14.75-49.50). The mean (SD) duration of symptom at presentation was 18.3±21.5 months. Children constituted 10 (19.2%), adolescents 8(15.4%), adults 31(59.6%) and elderly 3(5.8%). Family history of vitiligo was absent in all patients. The percentage body surface area (BSA) affected was 30% in 19(36.5%) of participants. The most common clinical type of vitiligo in this study was the generalized pattern accounting for 27(51.9%) of cases. Segmental pattern and focal pattern accounted for 13(25.0%) and 12(23.1%) respectively. The face, upper limbs and lower limbs were the most commonly affected anatomical sites found in the study accounting for 19(36.5%), 18(34.6%) and 17 (32.7%) respectively.
CONCLUSIONS
Vitiligo is an uncommon skin disease that affects both genders almost equally. Generalized vitiligo remains the commonest form of vitiligo and the face and extremities are the most commonly affected sites. Furthermore, the prevalence of vitiligo has not changed in the last 20 years.
Topics: Adolescent; Adult; Aged; Child; Female; Hospitals, Teaching; Humans; Male; Nigeria; Retrospective Studies; Tertiary Care Centers; Vitiligo
PubMed: 34177309
DOI: No ID Found -
La Revue de Medecine Interne Sep 2021
Topics: Eyebrows; Eyelashes; Hair Diseases; Humans; Uveomeningoencephalitic Syndrome
PubMed: 33838951
DOI: 10.1016/j.revmed.2021.03.007