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JAAD Case Reports Aug 2023
PubMed: 37521192
DOI: 10.1016/j.jdcr.2023.06.018 -
Case Reports in Oncology 2024Ipilimumab and nivolumab are checkpoint inhibitors that are known to cause a multitude of inflammatory ocular adverse events. Here we report a patient with poliosis and...
INTRODUCTION
Ipilimumab and nivolumab are checkpoint inhibitors that are known to cause a multitude of inflammatory ocular adverse events. Here we report a patient with poliosis and symptomatic depigmentation of the choroid and retinal pigment epithelium (RPE) associated with checkpoint inhibitor therapy for cutaneous melanoma.
CASE PRESENTATION
The patient presented with floaters in both eyes and concerns for intraocular metastases of metastatic cutaneous melanoma after 1 month of therapy with ipilimumab and nivolumab. External examination revealed poliosis of her eyebrows and eyelashes. Fundus photography demonstrated multiple 1-3 disc-diameter hypopigmented placoid flat areas in the RPE/choroid exposing underlying choroidal vessels in both eyes. At subsequent evaluation 7 months later (after an additional 6 months of checkpoint inhibitor therapy), the lesions appeared more blanched. Evaluation nearly 20 months after the initial presentation showed no significant changes from her prior visit despite cessation of checkpoint inhibitor therapy for 13 months.
CONCLUSION
Checkpoint inhibitor therapy for cutaneous melanoma metastases can cause depigmentation of the choroid and RPE that must be differentiated from progression of intraocular melanoma.
PubMed: 38264011
DOI: 10.1159/000535745 -
The Pan African Medical Journal 2017We here report the case of a 27-year old patient, followed-up in our Department for treatment of chronic Vogt-Koyanagi-Harada disease ( VKH disease). Fundus examination...
We here report the case of a 27-year old patient, followed-up in our Department for treatment of chronic Vogt-Koyanagi-Harada disease ( VKH disease). Fundus examination showed depigmentation of the retinal pigment epithelium and of the choroid, appearing as a pseudotumoral peripapillary lesion. Vogt-Koyanagi-Harada disease is a multisystem disorder, characterized by bilateral granulomatous panuveitis with serous exudative multifocal retinal detachment. Pathophysiology of this disease is unknown, but an immunological cellular reaction against melanocytes of the skin, the meninges, the retina, the uvea, the cochlea and the labyrinth is suspected. This disease mainly occurs in young subjects from the Far East as well as in pigmented subjects. Ocular involvement is often associated with neurological (meningeal stiffness, headache, sometimes associated with focal deficit and erebrospinal fluid (CSF) pleocytosis), auditory ( perceptive deafness) and cutaneous (vitiligo, poliosis, alopecia and canities) manifestations. It usually evolves in three phases: a prodromal phase mainly characterized by neurological signs, an acute uveitic phase, a chronic phase of convalescence characterized by choroidal and tegument depigmentation or a phase of recurrence during which subretinal neovessels and subretinal fibrosis may appear. Scarrings manifest during the chronic phase of VKH disease, which is dominated by diffuse depigmentation of the fundus of the eye, scars due to nummular chorioretinal atrophy, wheals due to diffuse depigmentation, macular scar remodeling. Pseudotumoral appearance is rare and atypical during the chronic phase of VKH disease. Treatment is based on intravenous corticosteroids followed by a cycle of oral therapy. Patient should be early treated with massive and prolonged therapy to improve prognosis.
Topics: Adult; Cicatrix; Female; Humans; Prognosis; Retinal Detachment; Retinal Pigment Epithelium; Uveomeningoencephalitic Syndrome
PubMed: 29721143
DOI: 10.11604/pamj.2017.28.313.4547 -
Cureus Aug 2018Waardenburg syndrome (WS) is a rare genetic disorder. It is caused by multiple mutations affecting the melanocytes, leading to a multitude of skin, hair, and eye...
Waardenburg syndrome (WS) is a rare genetic disorder. It is caused by multiple mutations affecting the melanocytes, leading to a multitude of skin, hair, and eye symptoms. It is an autosomal dominant disease with four subtypes, each presenting with varying degrees of sensorineural hearing loss along with a constellation of other symptoms. Hirschsprung disease is unique to Waardenburg-Shah syndrome subtype 4 and is not associated with any other subtype. We present a case of this subtype 4 that presented with a bilateral sensorineural hearing loss, mutism, delayed milestones, white forelock, Hirschsprung disease, and bilateral blue homochromatic irises, a finding which is not typical for this subtype. This is the first case of WS with homochromatic irises and the fourth case to be reported from Pakistan.
PubMed: 30345200
DOI: 10.7759/cureus.3143 -
Acta Dermato-venereologica Jul 2014
Topics: Adolescent; Adult; Age of Onset; Case-Control Studies; Down-Regulation; Female; Genetic Predisposition to Disease; Hair Color; Hair Diseases; Hair Follicle; Humans; Male; Microphthalmia-Associated Transcription Factor; Phenotype; Proto-Oncogene Proteins c-kit; RNA, Messenger; Signal Transduction; Young Adult
PubMed: 24287867
DOI: 10.2340/00015555-1763 -
The Canadian Veterinary Journal = La... Jun 2014A 5-year-old, intact female miniature poodle dog was presented with chronic ophthalmic problems, facial poliosis, nasal depigmentation and multiple areas of alopecia...
A 5-year-old, intact female miniature poodle dog was presented with chronic ophthalmic problems, facial poliosis, nasal depigmentation and multiple areas of alopecia over the trunk. Bilateral uveitis preceded dermatologic signs by 5 months and gradually worsened. The dog was diagnosed as having uveodermatologic syndrome (UDS) concurrent with keratoconjunctivitis sicca (KCS). Treatment with immunosuppressive drugs resolved the dermatologic lesions, but uveitis continued to progress.
Topics: Animals; Dog Diseases; Dogs; Female; Immunosuppressive Agents; Keratoconjunctivitis Sicca; Pigmentation Disorders; Syndrome; Uveitis
PubMed: 24891645
DOI: No ID Found -
The Korean Journal of Hepatology Mar 2011Vogt-Koyanagi-Harada (VKH) disease is a multisystem syndrome characterized by ocular (uveitis and retinal detachment), neurological (headache, tinnitus, and meningitis),...
Vogt-Koyanagi-Harada (VKH) disease is a multisystem syndrome characterized by ocular (uveitis and retinal detachment), neurological (headache, tinnitus, and meningitis), and integumentary (vitiligo, alopecia, and poliosis) involvement. Although the pathogenesis of VKH disease is not well understood, an autoimmune T-cell response to a melanocyte-associated antigen is considered to be a cause of VKH disease. The complex immunological response to interferon and ribavirin may induce or exacerbate the autoimmune condition; however, VKH disease is a very rare complication associated with interferon therapy in chronic hepatitis C. We report a case of VKH disease occurring during pegylated interferon-α2b and ribavirin combination therapy for chronic hepatitis C.
Topics: Anti-Inflammatory Agents; Antiviral Agents; Drug Therapy, Combination; Female; Fluorescein Angiography; Hepatitis C, Chronic; Humans; Interferon alpha-2; Interferon-alpha; Magnetic Resonance Imaging; Middle Aged; Polyethylene Glycols; Prednisolone; Recombinant Proteins; Ribavirin; Tomography, X-Ray Computed; Uveomeningoencephalitic Syndrome
PubMed: 21494079
DOI: 10.3350/kjhep.2011.17.1.61 -
BioMed Research International 2013Piebaldism is a rare autosomal dominant disorder of melanocyte development, which is mostly caused by KIT gene. The key characteristics of piebaldism include localized...
Piebaldism is a rare autosomal dominant disorder of melanocyte development, which is mostly caused by KIT gene. The key characteristics of piebaldism include localized poliosis, congenital leukoderma, and other variable manifestations. The previous study has illustrated that the homogeneous MC1R (a gene which is associated with the hair color) variant (p.I120T) coordinating with KIT mutation may lead to auburn hair color and piebaldism. In this study, we have investigated a Chinese family with piebaldism and auburn hair color; the mutation screening of KIT and MC1R genes identified that only a splicing mutation (c. 2484+1G>A) of KIT gene cosegregated with the auburn hair color and piebaldism. The data of this study and others suggests that the KIT mutation may causes of the auburn hair color in the piebaldism patients.
Topics: Adult; Alternative Splicing; Child; China; Female; Hair Color; Humans; Male; Mutation; Pedigree; Piebaldism; Proto-Oncogene Proteins c-kit
PubMed: 24000325
DOI: 10.1155/2013/689756 -
Journal of Clinical and Diagnostic... Apr 2014Vogt-Koyanagi-Harada syndrome (VKH) is a bilateral intraocular granulomatous panuveitis which is frequently associated with systemic manifestations such as meningismus,...
Vogt-Koyanagi-Harada syndrome (VKH) is a bilateral intraocular granulomatous panuveitis which is frequently associated with systemic manifestations such as meningismus, tinnitus, poliosis and vitiligo of autoimmune aetiology. Headache by itself, does not fulfill the diagnostic criteria and is insufficient for the diagnosis. A 22-year-old male presented with a 10 day history of headache, followed by decreased vision in both eyes. Slit lamp biomicroscopy revealed sluggishly reactive pupils with anterior uveitis, mild vitritis and hyperaemic discs with bilateral exudative retinal detachments. All uveitis workups were negative. Follow up of three years revealed no neurological or auditory symptoms. Headache alone, followed by decreased vision, before the onset of neurological and auditory symptoms, can be an initial presentation of Vogt-Koyanagi-Harada (VKH) syndrome. VKH should be considered in the differential diagnosis of atypical presentations of headache.
PubMed: 24959501
DOI: 10.7860/JCDR/2014/8067.4303 -
Journal of the National Medical... Feb 2005The objective of this study was to describe and estimate the prevalence of pigmentary disturbances occurring in the eyes of patients presenting with vitiligo in a...
The objective of this study was to describe and estimate the prevalence of pigmentary disturbances occurring in the eyes of patients presenting with vitiligo in a teaching hospital in Ibadan, Nigeria. Patients presenting with vitiligo to the dermatology clinic of the University College Hospital between March and December 2001 were referred to the eye clinic of the same hospital for ophthalmic evaluation. Patients were assessed by visual acuity, intraocular pressure, refraction, slit-lamp biomicroscopic evaluation of the anterior segments and funduscopic examination of the two eyes. Visual fields estimation was done using the Goldman's perimeter. A total of 26 patients were referred to the eye clinic. Of these, only 17 patients were considered evaluable for the study. There were seven males and eight females. The age range was 5-30 years. The largest extent of vitiligo recorded in the study population was 25% of the body surface area. The duration of the vitiligo was two months to 3 1/4 years. None of the patients complained of any visual disturbance. All ophthalmologic assessment profiles were normal for all patients. One of the patients had poliosis. No pigmentary disturbance of the eyes was noticed in any of our patients. Pigmentary changes were not seen in these groups of blacks with vitiligo.
Topics: Adolescent; Adult; Black People; Child; Child, Preschool; Eye Diseases; Female; Humans; Male; Nigeria; Prevalence; Referral and Consultation; Vision Tests; Visual Acuity; Vitiligo
PubMed: 15712795
DOI: No ID Found