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Криотерапия трихиазиса в Трахоме.

У 64 пациентов в Саудовской Аравии в 137 веках лечилась вторичная и трахома трихиазиса. Криотерапия с высоким потоком закиси азота в течение 45 секунд в цикле заморозки и заморозки. Показатель успешности лечения век составил 56% после одного лечения и увеличился до 90% после второго лечения. Гипопигментация высоко пигментированных век саудовского населения была нашим самым значительным осложнением (8% обработанных крышек). Поскольку криотерапия является переносной и эффективной с точки зрения затрат и может проводиться парамедицинским персоналом, она идеально подходит для использования в регио

Совпадение в аннотации оригинала
Trichiasis secondary to trachoma was treated in 137 eyelids from 64 patients in Saudi Arabia. Cryotherapy with high-flow nitrous oxide was applied to the lid margin for 45 seconds in a freeze-thaw-freeze cycle. The success rate of treated eyelids was 56% after one treatment and increased to 90% after a second treatment. Hypopigmentation of the highly pigment…

[Clinical characteristics and genetic identity of the basal cell nevus syndrome (Gorlin-Goltz syndrome)].

The clinical, genetic, radiological, dental and dermatological aspects of 3 patients with the autosomal dominant basal cell naevus syndrome are reported. An analysis of the phenotypic features of 72 cases described in the literature is presented and compared with a previous analysis. Ash leaf hypopigmentation similar to that found in tuberous sclerosis represents a unique finding in this syndrome. Other similarities to the phacomatoses are discussed. We were able to support a previous report that patients with the basal cell naevus syndrome have a normal end-organ response to parathormone stim…

Griscelli syndrome: a diagnostic challenge of a rare disease: a case report.

INTRODUCTION: Griscelli syndrome (GS) is a rare autosomal recessive genetic disorder that primarily manifests as hair and skin hypopigmentation, with three types differentiated by their specific genetic defects as well as by their clinical features. Clinically, GS type 1 is characterized by early neurological alterations, while GS type 2 is characterized by immunodeficiency and could present with neurological symptoms, and type 3 is characterized by a chromosomal anomaly without a specific clinical profile besides hypopigmentation. This article details the challenges faced in the diagnosis of …

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.

PURPOSE: The purpose of this study was to further expand the mutational spectrum of the Foveal Hypoplasia, Optic Nerve Decussation defect, a … (17/17). Misrouting was present in all nine tested patients. None of the patients had any signs of hypopigmentation of skin and hair. VA in albinism was better (median = 0.5 logMAR, IQR = 0.3-0.7, P 0.006) and the phenotypes were more variable: 14 of 132 without nystagmus, foveal hypoplasia grades 1 to 4, and misrouting absent in 16 of 74. CONCLUSIONS: Compared …

A Saudi Infant with Vici Syndrome: Case Report and Literature Review.

INTRODUCTION: Vici syndrome, a rare autosomal recessive disorder, was first described in 1988 by Vici et al. Only 78 cases have been reported to date. The syndrome is characterised by agenesis of the corpus callosum, hypopigmentation, cardiomyopathy, progressive failure to thrive, dysmorphic features, immunodeficiency and cataracts. Mutations in the gene epg5 have been identified as the cause of Vici syndrome. CASE DESCRIPTION: The parents are a consanguineous Saudi couple with two other children diagnosed with Gaucher disease. The patient was born at term and in the first 5 months had many h…

A Clinicopathological and Immunohistochemical Profile of Primary Extra Mammary Paget's Disease in Skin of Colour: A Case Series.

Extramammary Paget's disease is an intraepithelial neoplasm, usually found in areas rich in apocrine gland concentration. The clinical features, histopathology, immunohistochemistry and management details of five patients (F = 3, M = 2) have been described here. While a well-defined persistent plaque with crusting and erosion was the most common presentation, hyperpigmentation, hypopigmentation and depigmentation were also observed in two patients. Characteristic Paget's cells with cytokeratin 7 and EMA positivity were seen on histopathology examination. Authors conclude that pigmentary altera…

COBALAMIN C DEFICIENCY WITH INFANTILE SPASM AND CUTANEOUS FINDINGS: A UNIQUE CASE.

Cobalamin C (CbIC) deficiency is a rare disorder of vitamin B12 metabolism which results from impaired conversion of both its active forms m … ous lesions. To our knowledge, the patient is the first diagnosed with cblC deficiency who had skin hypopigmentation.

Dyschromatosis universalis hereditaria: two cases in a Chinese family.

Two cases of dyschromatosis universalis hereditaria (DUH) from a Chinese family are presented. Case 1 was a 62-year-old woman who had a generalized and progressive hyper- and hypopigmentation of the skin from the age of 8 years. Her brother had also developed a similar skin pigmentary defect from about the same age. Histopathological and ultrastructural examination of lesional skin showed increased melanin content in epidermal keratinocytes but no changes in the appearance or number of melanocytes. Although hereditary defects may influence melanogenesis resulting in a pigmentary anomaly, the p…

Laser skin resurfacing treatment outcome of facial scars and wrinkles in Asians with skin type III/IV with the Unipulse CO2 laser system.

OBJECTIVE: To study the efficacy and complications from Unipulse CO2 laser resurfacing system (Nidek, California) for the treatment of scars … t improvement" = >75% clearance. Complications (assessed by dermatologist only) including erythema, hypopigmentation and hyperpigmentation were scored subjectively as none, minimal, mild, moderate and severe. RESULTS: 16 (nine females, seven males) patients were studied. Thirteen patients were treated for acne scars, two patients for wrinkles and one patient for …

Neurovisual profile in children affected by Angelman syndrome.

BACKGROUND: Angelman syndrome (AS) is a rare neurogenetic disorder caused by altered expression of the maternal copy of the UBE3A gene. Together with motor, cognitive, and speech impairment, ophthalmological findings including strabismus, and ocular fundus hypopigmentation characterize the clinical phenotype. The aim of this study was to detail the neurovisual profile of children affected by AS and to explore any possible genotype-phenotype correlations. METHODS: Thirty-seven children (23 females, mean age 102.8 ± 54.4 months, age range 22 to 251 months) with molecular confirmed diagnosis of …

Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.

BACKGROUND: The study aimed to describe genotype-phenotype associations in patients with oculocutaneous and ocular-only albinism and to eval … translucency (any translucency 80.2%, moderate to severe 31.5%), misrouting on VEP (80.0%): fundus hypopigmentation (any hypopigmentation: 75.8%, severe 30.1%), fair skin type (73.8%), blue irides (62.0%), blonde hair (57.5%), and unpigmented eye lashes (39.1%). There were no phenotypic differences between the different genetic subgroups of albinism but patients …

Treatment of Laser-Responsive Dermal Pigmentary Conditions in Type III-IV Asian Skin With a 755-nm Picosecond Pulse Duration Laser: A Retrospective Review of Its Efficacy and Safety.

BACKGROUND: Picosecond lasers have become very popular in the treatment of hyperpigmentation. OBJECTIVE: Evaluating the efficacy and safety … patients (37.9%) experienced postlaser erythema, and 1 (3.4%) patient developed transient postlaser hypopigmentation. No permanent hyper/hypopigmentation was seen. CONCLUSION: The picosecond 755-nm laser is effective in the treatment of dermal pigmentary conditions in Asians with Fitzpatrick skin Types III/IV, with minimal risk of postlaser complications, and com …

N-Ethylmaleimide-Sensitive Factor b (nsfb) Is Required for Normal Pigmentation of the Zebrafish Retinal Pigment Epithelium.

PURPOSE: Despite the number of albinism-causing mutations identified in human patients and animal models, there remain a significant number … sion electron microscopy (TEM) and image quantification were used to identify the cellular basis of hypopigmentation. RESULTS: Whole-genome sequencing and SNP mapping identified a nonsense mutation in the N-ethylmaleimide-sensitive factor b (nsfb) gene in au18 mutants. Complementary DNA sequencing confirmed the presence of the mutation (C893T), which truncates th …

Full thickness skin grafts in periocular reconstructions: long-term outcomes.

PURPOSE: To evaluate the outcomes of eyelid reconstruction in patients who underwent full thickness skin grafts. METHODS: A retrospective, … 95% of all patients achieved good final eyelid position. Good color match was seen in 94% and graft hypopigmentation in 6%. An association between hypopigmentation and supraclavicular and inner brachial donor site was found to be statistically significant. CONCLUSIONS: Most patients (94%) achieved good eyelid position and color match. Majority (91%) of the early …

Chemical leucoderma: a clinico-aetiological study of 864 cases in the perspective of a developing country.

BACKGROUND: Chemical leucoderma, often clinically mimicking idiopathic vitiligo and other congenital and acquired hypopigmentation, has been increasing rapidly in incidence in developing countries such as India. OBJECTIVES: This study attempts to detect clinical and epidemiological patterns of chemical leucoderma. METHODS: Detailed history-taking, especially of exposure to contributory chemicals, clinical examination, relevant investigations, data recording and analysis were done. RESULTS: In a total of 864 cases of chemical leucoderma, 65.6% cases started de novo and vitiligo patches were …

Macular coloboma-like lesions and pigment abnormalities as complications of cryotherapy for retinopathy of prematurity in very low birth-weight infants.

PURPOSE: Cryotherapy for retinopathy of prematurity (ROP) is effective in reducing the incidence of blindness in premature infants. However, … (six eyes), macular hyperpigmentation (two eyes), irregularly mottled macular hyperpigmentation and hypopigmentation (two eyes), and macular hyperpigmentation and hypopigmentation with subretinal proliferation (one eye). Corrected visual acuity in affected eyes ranged from 0.15 to 0.03 (20/133 to 20/666) compared with 1.0 to 0.2 (20/20 to 20/100) in treated eyes w …

The Role of Oxidative Stress in Vitiligo: An Update on Its Pathogenesis and Therapeutic Implications.

Vitiligo is an autoimmune skin disorder caused by dysfunctional pigment-producing melanocytes which are attacked by immune cells. Oxidative stress is considered to play a crucial role in activating consequent autoimmune responses related to vitiligo. Melanin synthesis by melanocytes is the main intracellular stressor, producing reactive oxygen species (ROS). Under normal physiological conditions, the antioxidative nuclear factor erythroid 2-related factor 2 (Nrf2) pathway functions as a crucial mediator for cells to resist oxidative stress. In pathological situations, such as with antioxidant