RESUMEN

Vogt-Koyanagi-Harada syndrome (VKH) is an uncommon multi-system autoimmune inflammatory disorder characterized by bilateral granulomatous panuveitis with serous retinal detachment accompanied by neurological, auditory, and cutaneous manifestations like headache, hearing loss, vitiligo, and poliosis. It has a female preponderance, usually in middle age. We report the case of a 20-year-old male who presented to us with rapidly progressive visual loss accompanying granular panuveitis, complicated cataract, and a mixed mechanism neovascular glaucoma with acute angle closure. He was treated for IOP control and underwent aggressive immunosuppression and, later, bilateral laser iridotomies. It wasn't until one month after the initial presentation that he presented with vitiligo and poliosis of the eyebrows and eyelashes, clinching the diagnosis of VKH syndrome. This case highlights the diagnostic challenge faced due to acute neovascular glaucoma being the initial presenting feature of VKH; hitherto not documented before, although acute angle closure glaucoma or crisis has occasionally been reported at presentation; the classical VKH presentation being an acute posterior segment uveitis or less commonly, a chronic, recurrent panuveitis presenting with/ without complications. This case underlines the importance of considering VKH syndrome in a patient with bilateral granulomatous panuveitis, as dermatological involvement can emerge later in the disease course, by which time vision might have already been compromised significantly.

RESUMEN

Poliosis is defined as the absence of melanin in hair, and hair graying typically occurs with hair melanin reduction. Poliosis can occur at any age but presents in childhood in certain genetic and acquired conditions, with many families seeking evaluation from a pediatric dermatologist. Poliosis presents as white hair typically restricted to a certain location of the scalp. Children may also present with a reduction of expected hair pigmentation, referred to as pigment dilution, or the development of hair graying. This review aims to provide a streamlined diagnostic approach for pediatric dermatologists when presented with these hair findings. Poliosis should be recognized as a potential diagnostic feature or initial sign in many syndromes and thus can guide clinicians in diagnosing and managing conditions earlier in a patient's care. Since many of the genetic and acquired conditions that present with poliosis or hair pigment dilution have extracutaneous manifestations, early diagnosis is vital in establishing multidisciplinary care.

Asunto(s)

Asunto(s)

RESUMEN

INTRODUCTION: Combined immune checkpoint inhibitor therapy has been successfully used in the treatment of several malignancies. Adverse effects with the combination therapy may be more severe than the ones seen with single immune checkpoint inhibitors. CASE PRESENTATION: We report a unique case of a 59-year-old man of dark skin complexion who underwent treatment with intravenous ipilimumab-nivolumab every 3 weeks for metastatic malignant melanoma. After three cycles of this therapy, he developed extensive skin depigmentation that within 6 weeks, affected nearly the entire skin surface, along with progressive poliosis. MANAGEMENT AND OUTCOME: Ipilimumab-nivolumab therapy was subsequently discontinued due to grade 3 enterocolitis requiring high-dose steroids and intravenous infliximab. About six months later, imaging studies showed a relapse of malignant melanoma. At that juncture, vitiligo affected the total body surface area, resembling albinism, along with near-total poliosis and significant photosensitivity. Pembrolizumab was tried but had to be stopped after three cycles due to the reoccurrence of grade 3 enterocolitis. Progression of malignant melanoma with new brain, lung, liver, subcutaneous, and colonic metastases led to the patient's demise. CONCLUSION: We report a unique case of severe vitiligo and poliosis that involved total body surface area in a Caucasian man with dark complexion, resembling albinism. Further studies are warranted to evaluate the severity of dermatologic side effects with combination immune checkpoint inhibitor therapy.

Asunto(s)

Asunto(s)

RESUMEN

Cutis verticis gyrata (CVG), characterized by cerebriform overgrowth of the scalp, is rarely observed in congenital melanocytic nevi (CMN). We describe a 13-year-old male with autism and a large CMN of the scalp with numerous satellite nevi whose scalp nevus exhibited evolution with poliosis and CVG. Given the potential association of CVG (independent of CMN) with seizures, neuropsychiatric, and ophthalmologic disorders, and nevus-associated CVG (cerebriform intradermal nevus) with melanoma, multidisciplinary evaluation of CMN patients with CVG is important to guide management and treatment.

Asunto(s)

RESUMEN

Halo nevus (HN) is benign skin condition with a central melanocytic nevus, surrounded by an area or halo of depigmentation. It is the result of immunological response of the body toward the nevus, which destroys the melanocytes in surrounding skin, leading to the depigmented halo. An increased frequency of HN in patients with vitiligo is observed. It is more commonly seen in children or young adults of either sex, particularly on the trunk, less commonly on the face, neck, and limbs. We present a rare case of HN which was present on the lower eyelid associated with poliosis, diagnosed with dermatoscopy.

RESUMEN

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.

RESUMEN

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.

Asunto(s)

RESUMEN

BACKGROUND: East and South East Asian subjects as well as Amerindians and Hispanic subjects are predominantly affected by Vogt-Koyanagi-Harada disease. In Europe, only few studies have described the clinical features and treatment of this disease, especially in France. METHODS: This retrospective case series was based on data collected from patients with a VKH disease diagnosed from January 2000 to March 2017, provided by three French Tertiary Centers. RESULTS: Forty-one patients (16 men and 25 women) were diagnosed: average age at diagnosis was 38.7 years. Patients were mainly from Maghreb (58%), but ethnic origins were multiple. Pleiocytosis was observed in 19 cases (63%) and 17 out of 41 patients showed audio vestibular signs (41%), and 11 showed skin signs (27%). Thirty-four were treated with corticosteroids (83%), 11 with an immunosuppressant treatment (27%) and 5 with biological therapy drugs (13%). Relapse was observed in 41% patients, even though final average visual acuity had improved. We did not find any significant clinical difference in the population from Maghreb compared to other populations, but for age and sex trends, since there was a majority of younger women. CONCLUSION: We report here the second largest French cohort reported to date to our knowledge. The multiethnicity in our study suggests that VKH disease should be evoked whatever patients' ethnicity.

Asunto(s)

RESUMEN

PURPOSE: To report asymptomatic progressive fundus depigmentation and choroidal thinning in the absence of intraocular inflammation in a patient treated with checkpoint inhibitors. OBSERVATIONS: A 69-year-old woman with metastatic cutaneous melanoma, treated with checkpoint inhibition (nivolumab, ipilimumab and pembrolizumab), developed asymptomatic progressive fundus depigmentation associated with choroidal thinning in both eyes over 26 months. Serial multimodal imaging was obtained over the study period including fundus photography, fundus autofluorescence and optical coherence tomography (OCT). Over 26 months, the central choroidal thickness decreased by 34% (from 270µm to 92µm, mean between both eyes). Concurrently, central retinal thickness remained stable (206µm to 214µm, mean between both eyes). There were no findings of intraocular inflammation, subretinal fluid or retinal pigment epithelium disturbance. The patient reported no visual symptoms and maintained a visual acuity of 20/25+ in the right eye and 20/30 in the left eye throughout the observation period. Concurrently, cutaneous vitiligo and poliosis, inclusive of her periorbital dermis and eyelashes also developed. CONCLUSIONS AND IMPORTANCE: Progressive fundus depigmentation and choroidal thinning can be observed with checkpoint inhibition in the absence of intraocular inflammation.

RESUMEN

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.

Asunto(s)

RESUMEN

Two brothers were referred to our clinic for reevaluation of neurofibromatosis type 1 (NF1). Both brothers presented a peculiarity that is not so common in NF1: poliosis overlying plexiform neurofibromas on the scalp. Poliosis overlying plexiform neurofibromas is rarely reported in the literature. The peculiarity of our cases is the familiarity and the presence of poliosis in the same location.

RESUMEN

Neurocristic cutaneous hamartomas (NCH) are rare, pigmented skin lesions derived from the abnormal migration of neural crest cells. We report the case of a 57-year-old female with a congenital localized area of poliosis and underlying pigmented patch on her scalp. Analysis of 2 punch biopsies yielded features consistent with NCH. Histopathology revealed schwannian-differentiated spindle cells and melanocytic components in the dermis. The spindle cells stained positively for S-100 and the stroma showed a prominent CD34 staining. The melanocytes were positive for melanoma triple stain (HMB-45, Melan A, Tyrosinase) and S-100. As the presentation of NCH and focal poliosis has yet to be described, we will present a literature review of NCH and discuss common features and associations of poliosis.

Asunto(s)