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Pseudotumoral and Multiple Retinal Pigment Epithelium Proliferation in Vogt-Koyanagi-Harada Disease.Case Reports in Ophthalmological... 2015We report a case of pseudotumoral retinal pigment epithelium (RPE) proliferation in Vogt-Koyanagi-Harada (VKH) disease, in a 50-year-old female who presented with a...
We report a case of pseudotumoral retinal pigment epithelium (RPE) proliferation in Vogt-Koyanagi-Harada (VKH) disease, in a 50-year-old female who presented with a juxtapapillary and peripheral subretinal hyperpigmented lesions in the left eye and "sunset glow fundus," hyperpigmented striae, and multiple atrophic chorioretinal spots in the periphery. The darkly pigmented exuberant larger subretinal mass extended to the periphery with associated subretinal fibrosis. This patient demonstrated the entire clinical presentation of VKH disease, which tends to course with a chronic, bilateral, granulomatous panuveitis and exudative retinal detachment associated with poliosis, vitiligo, alopecia, and central nervous system and auditory signs. Our case is unique for the presence of exuberant, pseudotumoral RPE proliferation at the juxtapapillary region and peripheral area. Although this complication has rarely been reported, a high index of suspicion is warranted for early diagnosis and avoids unnecessary treatments of a pseudotumor.
PubMed: 26509089
DOI: 10.1155/2015/153831 -
Dermatology Online Journal Jan 2010Piebaldism is a rare disorder present at birth and inherited as an autosomal dominant trait. It results from a mutation in the c-kit proto-oncogene and is associated...
Piebaldism is a rare disorder present at birth and inherited as an autosomal dominant trait. It results from a mutation in the c-kit proto-oncogene and is associated with a defect in the migration and differentiation of melanoblasts from the neural crest. Clinical manifestations and phenotypic severity strongly correlates with the site of mutation within the KIT gene. Here we report a 3-year-old boy and his 33-year-old father with leukoderma and poliosis associated with clinical criteria for Neurofibromatosis type 1. Genetic study of both revealed a p.Gly610Asp mutation in the KIT gene. This familiar mutation has not yet been reported in the literature. There are rare reports of piebaldism in association with neurofibromatosis type I.
Topics: Adult; Amino Acid Substitution; Child, Preschool; Exons; Genes, Neurofibromatosis 1; Genetic Heterogeneity; Humans; Learning Disabilities; Male; Mutation, Missense; Neurofibromatosis 1; Piebaldism; Point Mutation; Proto-Oncogene Mas; Proto-Oncogene Proteins c-kit
PubMed: 20137753
DOI: No ID Found -
Indian Journal of Dermatology,... 2012
Topics: Child; Female; Hair Color; Humans; Hypopigmentation; Nevus, Halo; S100 Proteins; Scalp
PubMed: 23075667
DOI: 10.4103/0378-6323.102402 -
The British Journal of Dermatology Jun 2017Cytotoxic T-lymphocyte-associated protein-4, programmed cell death protein and programmed cell death protein ligand 1 monoclonal antibodies (immune checkpoint...
Cytotoxic T-lymphocyte-associated protein-4, programmed cell death protein and programmed cell death protein ligand 1 monoclonal antibodies (immune checkpoint inhibitors), are used to treat various malignancies. Their mechanism of action involves the inhibition of negative regulators of immune activation, resulting in immune-related adverse events (irAEs) including endocrinopathies, pneumonitis, colitis, hepatitis and dermatological events. Dermatological irAEs include maculopapular rash, pruritus, vitiligo, blistering disorders, mucocutaneous lichenoid eruptions, rosacea and the exacerbation of psoriasis. Alopecia secondary to immune checkpoint inhibitors has been reported in 1·0-2·0% of treated patients. Our objective is to characterize for the first time the clinicopathology of patients with alopecia areata (AA) secondary to immune checkpoint inhibitors, including the first report of anti-PD-L1 therapy-induced AA, and review of the literature. Four cases of patients who developed partial or complete alopecia during treatment with immune checkpoint inhibitors for underlying cancer were identified from our clinics. Methods include the review of the history and clinicopathologic features. Three patients (75%) had AA and one had universalis. Two patients had a resolution after topical, oral or intralesional therapies and one had a resolution after immunotherapy was discontinued; all regrown hair exhibited poliosis. One of the four patients had coincident onychodystrophy. This report describes a series of four patients who developed partial or complete alopecia (i.e. areata and universalis) during treatment with immune checkpoint inhibitor therapies for cancer. The recognition and management of hair-related irAEs are important for pretherapy counselling and interventions that contribute to maintaining optimal health-related quality of life in patients.
Topics: Adult; Aged; Alopecia Areata; Antibodies, Monoclonal, Humanized; B7-H1 Antigen; CTLA-4 Antigen; Carcinoma, Renal Cell; Drug Therapy, Combination; Female; Humans; Immunotherapy; Kidney Neoplasms; Male; Melanoma; Middle Aged; Neoplasm Metastasis; Skin Neoplasms
PubMed: 27943234
DOI: 10.1111/bjd.15237 -
The British Journal of Dermatology Jan 2018Pembrolizumab is an immune checkpoint inhibitor that targets the programmed cell death (PD)-1 receptor. Common cutaneous adverse side-effects of PD-1 inhibitors include...
Pembrolizumab is an immune checkpoint inhibitor that targets the programmed cell death (PD)-1 receptor. Common cutaneous adverse side-effects of PD-1 inhibitors include maculopapular rash, pruritus, vitiligo and lichenoid skin and mucosal reactions. Here we describe a man in his sixties with metastatic melanoma treated with pembrolizumab who subsequently developed fading or disappearance of pigmented skin lesions, lightening of the skin, and poliosis of the eyebrows, eyelashes and scalp and body hair. Compared with baseline high-resolution three-dimensional total-body photography, we observed fading or disappearance of solar lentigines, seborrhoeic keratoses and melanocytic naevi, suggesting that PD-1 inhibitors may affect the evolution of these benign skin lesions. With dermatoscopic follow-up, altered lesions showed either blue-grey peppering/granularity or fading in colour without other identifiable features. No halo lesions or lesions with surrounding inflammation were identified. One changed pigmented lesion that showed blue-grey peppering/granularity on dermoscopy was biopsied and interpreted as a macular seborrhoeic keratosis with melanophages. Further studies are required to elucidate the effects of PD-1 inhibition on benign skin lesions.
Topics: Antibodies, Monoclonal, Humanized; Antineoplastic Agents, Immunological; Humans; Liver Neoplasms; Male; Melanoma; Middle Aged; Pigmentation Disorders; Skin Neoplasms
PubMed: 28132411
DOI: 10.1111/bjd.15354 -
Ophthalmology May 2009To describe the ophthalmic and systemic autoimmune findings after successful adoptive cell transfer of ex vivo expanded, autologous tumor-reactive tumor-infiltrating...
OBJECTIVE
To describe the ophthalmic and systemic autoimmune findings after successful adoptive cell transfer of ex vivo expanded, autologous tumor-reactive tumor-infiltrating lymphocytes (TIL) for metastatic melanoma.
DESIGN
Retrospective, interventional case report.
PARTICIPANT
A 35-year-old man who underwent immunotherapy for metastatic melanoma with adoptive cell transfer of tumor-reactive TIL.
METHODS
A 35-year-old man with metastatic melanoma was treated with TIL plus interleukin-2 (IL-2) therapy after a lymphodepleting regimen of cyclophosphamide and fludarabine for metastatic melanoma, which led to a complete and durable remission. Bilateral panuveitis, hearing loss, vitiligo, poliosis, and alopecia developed in the patient, requiring local ophthalmic immunosuppressive therapy. The clinical course, diagnostic testing, and therapeutic interventions over a 2-year period are reviewed.
MAIN OUTCOME MEASURES
Visual acuity, anterior chamber and vitreous inflammation, optical coherence tomography findings, serial electro-oculograms (EOGs), microperimetry (MP-1) testing, flow cytometric analysis of cells derived from the aqueous humor, and aqueous humor cytokine profiles were evaluated.
RESULTS
After melanoma immunotherapy, complete tumor regression was achieved at 5 months after treatment with a durable, ongoing, complete remission at 24 months. Early in the treatment course, a high fever, a diffuse rash, hearing loss, and bilateral anterior uveitis developed acutely in the patient. Late autoimmune sequelae included the development of alopecia, vitiligo, poliosis, and bilateral panuveitis with diffuse retinal pigment epithelium (RPE) hypopigmentation, reminiscent of Vogt-Koyanagi-Harada (VKH) syndrome. Bilateral cystoid macular edema also developed that was responsive to acetazolamide. Serial EOGs showed alterations in RPE standing potentials in dark conditions, and MP-1 testing revealed diminished foveal and perifoveal sensitivity. An aqueous humor aspirate revealed a high concentration of melanoma tumor antigen-reactive T cells compared with that of peripheral blood samples, as well as a proinflammatory aqueous cytokine profile. At the time of cataract surgery 22 months after immunotherapy, a repeat aqueous humor sample showed the disappearance of the previously seen melanoma differentiation antigen-reactive lymphocytes, but the proinflammatory cytokine profile persisted.
CONCLUSIONS
Ocular and systemic autoimmune sequelae resembling VKH may develop after successful melanoma immunotherapy. This report provides insight into the pathogenesis of VKH disease. The patient's clinical course illustrates the fine balance between tumor-specific immunity and loss of self-tolerance.
FINANCIAL DISCLOSURE(S)
The author(s) have no proprietary or commercial interest in any materials discussed in this article.
Topics: Adult; Antigens, Neoplasm; Aqueous Humor; Autoimmunity; Colonic Neoplasms; Cytokines; Electrooculography; Flow Cytometry; Humans; Immunotherapy, Adoptive; Interleukin-2; Lymphatic Metastasis; Lymphocytes, Tumor-Infiltrating; Male; Melanoma; Melanoma-Specific Antigens; Neoplasm Proteins; Neoplasm Recurrence, Local; Retrospective Studies; Tomography, Optical Coherence; Uveomeningoencephalitic Syndrome; Visual Field Tests
PubMed: 19410956
DOI: 10.1016/j.ophtha.2008.12.004 -
Korean Journal of Ophthalmology : KJO Aug 2010A 39-year-old man with poliosis of his lower eyelid lashes visited our clinic. He reported that his symptoms began with a few central lashes and then spread along the...
A 39-year-old man with poliosis of his lower eyelid lashes visited our clinic. He reported that his symptoms began with a few central lashes and then spread along the adjacent lashes during the ensuing 2 weeks. A pigmented nevus, approximately 4 mm in diameter, was identified just above the white lashes without surrounding skin depigmentation. No specific findings were identified with regard to the patient's general health or serologic and radiologic testing. Excisional biopsy of the pigmented nevus was performed. On histopathologic examination, infiltration of the dermis by numerous lymphocytes and melanophages was observed. The poliosis was ultimately diagnosed as a presenting sign of the halo phenomenon in the regressive stage of a melanocytic nevus.
Topics: Adult; Biopsy; Diagnosis, Differential; Eyelashes; Eyelid Neoplasms; Hair Diseases; Humans; Hypopigmentation; Male; Nevus, Halo
PubMed: 20714388
DOI: 10.3341/kjo.2010.24.4.237 -
Molecular Vision Aug 2009Vogt-Koyanagi-Harada (VKH) syndrome is an autoimmune disease. The monocyte chemoattractant protein-1 (MCP-1) gene has been implicated in the pathogenesis of certain...
PURPOSE
Vogt-Koyanagi-Harada (VKH) syndrome is an autoimmune disease. The monocyte chemoattractant protein-1 (MCP-1) gene has been implicated in the pathogenesis of certain autoimmune diseases. The aim of this study was to examine whether a MCP-1 polymorphism was associated with VKH syndrome.
METHODS
A case-control analysis was performed using genomic DNA samples from 307 VKH patients and 319 age-, sex-, and ethnically-matched healthy controls. The MCP-1 polymorphism at the -2518 A/G locus was genotyped using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assay.
RESULTS
The distribution of genotypic frequency of the MCP-1 -2518 A/G polymorphism in all subjects did not deviate from Hardy-Weinberg equilibrium (HWE; p>0.05). Allelic and genotypic frequency analysis revealed no significant difference between VKH patients and healthy controls for the MCP-1 -2518 A/G polymorphism (p>0.05). No significant differences were found according to gender and neither was found according to extraocular findings including neck stiffness, tinnitus, alopecia, poliosis, dysacusia, scalp hypersensitivity, and vitiligo.
CONCLUSIONS
The result suggests that the susceptibility to VKH syndrome in Chinese Han patients may be not influenced by the MCP-1 -2518 A/G polymorphism.
Topics: Adult; Asian People; Case-Control Studies; Chemokine CCL2; China; Female; Gene Frequency; Genotype; Humans; Male; Polymorphism, Single Nucleotide; Uveomeningoencephalitic Syndrome
PubMed: 19668598
DOI: No ID Found -
Journal of the American Veterinary... Feb 2006A 7-year-old Siberian Husky-type dog with heterochromia irides was evaluated because of signs of pain associated with the right eye.
CASE DESCRIPTION
A 7-year-old Siberian Husky-type dog with heterochromia irides was evaluated because of signs of pain associated with the right eye.
CLINICAL FINDINGS
Unilateral panuveitis, iris bombé, and secondary glaucoma were detected in the right eye. Tear production was low bilaterally. Facial and truncal poliosis and vitiligo were also evident; skin biopsy specimens were obtained from the nasal planum. Uveodermatologic syndrome was diagnosed on the basis of histopathologic findings of a lichenoid interface dermatitis and pigmentary incontinence within the dermis. Immunohistochemical analysis was performed on skin samples retrospectively, and findings were inconclusive.
TREATMENT AND OUTCOME
Treatment involved topical (ocular) and oral administration of corticosteroids, oral administration of azathioprine, and topical (ocular) administration of a carbonic anhydrase inhibitor and a lacrimostimulant. The secondary glaucoma was refractory to treatment, and the right eye was enucleated. Uveodermatologic syndrome was confirmed via histologic examination of ocular tissues. The left eye remained free of inflammation 16 months after the initial diagnosis. The periocular skin and skin of the nose partially regained pigment, but the hair did not.
CLINICAL RELEVANCE
Some breeds in which uveodermatologic syndrome has been reported (eg, Siberian Huskies, Old English Sheepdogs, Australian Shepherds, and Shetland Sheepdogs) often have heterochromia irides. This case highlights the fact that dogs with asymmetric uveal pigmentation may have unilateral ocular changes; therefore, uveodermatologic syndrome should not be excluded as a differential diagnosis on the basis of unilateral clinical signs.
Topics: Adrenal Cortex Hormones; Animals; Azathioprine; Carbonic Anhydrase Inhibitors; Diagnosis, Differential; Dog Diseases; Dogs; Female; Glaucoma; Pedigree; Pigmentation Disorders; Syndrome; Uveitis
PubMed: 16478427
DOI: 10.2460/javma.228.4.543 -
The Pan African Medical Journal 2018Scleroatrophic lichen (SL) and vitiligo are two depigmenting disorders which may occur separately or, rarely, in combination. Their association may seem logical because...
Scleroatrophic lichen (SL) and vitiligo are two depigmenting disorders which may occur separately or, rarely, in combination. Their association may seem logical because both these disorders are characterized by the suspicion of an autoimmune pathogenesis. We here report the case of a 8-year old girl, with no notable medical history, presenting with achromic macules and papular nonpruritic lesions evolving over 6 months. Clinical examination showed two types of lesions (A): ovalaire achromic macules measuring 1-3 cm along their longer axis, located at the level of the front, of the neck, of the shoulders, as well as of the peri-mamelonar and of the genital region. These lesions exhibited slightly raised peripheral inflammatory border as well as a poliosis. The patient also had pearly white atrophic papular plaques at the level of the interscapular and abdominal regions as well as of the anterior face of the knees. Two biopsies were performed. Histological examination of an achromic macula showed vitiligo with inflammatory reaction while histological examination of an infiltrated lesion allowed the diagnosis of scleroatrophic lichen. Significant clinical improvement was obtained by local treatment with dermocorticoids. Therefore, this pathological association between scleroatrophic lichen and vitiligo in our patient, highlights the key role of epidermal lichenoid inflammatory process in the disappearance of melanocytes and, possibly, in the induction of a auto-immune process.
Topics: Biopsy; Child; Female; Humans; Inflammation; Lichen Sclerosus et Atrophicus; Melanocytes; Vitiligo
PubMed: 30344859
DOI: 10.11604/pamj.2018.30.75.13954