39,914 results match your criteria Hypomelanosis of Ito

Conformational changes of tyrosinase caused by pentagalloylglucose binding: Implications for inhibitory effect and underlying mechanism.

Food Res Int 2022 Jul 29;157:111312. Epub 2022 Apr 29.

College of Life Science and Engineering Research Center of Ecology and Agricultural Use of Wetland, Ministry of Education, Yangtze University, Jingzhou, China; College of Life Science and Engineering, Henan University of Urban Construction, Pingdingshan, China. Electronic address:

Tyrosinase is a critical enzyme related to various pigmentation disorders and browning of fruits and vegetables. In this study, a novel inhibitor pentagalloylglucose (PGG) against tyrosinase was prepared from tannic acid with the chemical structure elucidated using HPLC, ESI-MS, H- and C NMR. Its inhibitory effect and the underlying mechanism on tyrosinase were explored by enzyme kinetics, UV-scanning, copper-ion chelation, fluorescence, circular dichroism, fourier transform infrared spectroscopy and molecular docking simulation. Read More

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Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Genes (Basel) 2022 Jun 16;13(6). Epub 2022 Jun 16.

Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Sakaka 75471, Aljouf, Saudi Arabia.

Oculocutaneous albinism (OCA) is an autosomal recessive syndromic and non-syndromic defect with deficient or a complete lack of the melanin pigment. The characteristics of OCA appears in skin, hair, and eyes with variable degree of pigmentation. Clinical manifestations of OCA include nystagmus, photophobia, reduced visual acuity, hypo-plastic macula, and iris trans-illumination. Read More

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Dysregulated myosin in Hermansky-Pudlak syndrome lung fibroblasts is associated with increased cell motility.

Respir Res 2022 Jun 23;23(1):167. Epub 2022 Jun 23.

Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA, 02115, USA.

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by improper biogenesis of lysosome-related organelles (LROs). Lung fibrosis is the leading cause of death among adults with HPS-1 and HPS-4 genetic types, which are associated with defects in the biogenesis of lysosome-related organelles complex-3 (BLOC-3), a guanine exchange factor (GEF) for a small GTPase, Rab32. LROs are not ubiquitously present in all cell types, and specific cells utilize LROs to accomplish dedicated functions. Read More

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Incobotulinum Toxin Type A for Treatment of Ultraviolet-B-Induced Hyperpigmentation: A Prospective, Randomized, Controlled Trial.

Toxins (Basel) 2022 Jun 17;14(6). Epub 2022 Jun 17.

Division of Dermatology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, 270 Rama VI Road, Rajthevi, Bangkok 10400, Thailand.

Incobotulinum toxin A (IncoBoNT-A) is effective in preventing ultraviolet B (UVB)-induced hyperpigmentation. This prospective, randomized, controlled study aimed to evaluate the effect of IncoBoNT-A on the treatment of UVB-induced hyperpigmentation in 15 volunteers. Five hyperpigmentation squares (2 × 2 cm) were induced by local UVB on the abdomen at baseline. Read More

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[100 years Peutz-Jeghers syndrome].

Ned Tijdschr Geneeskd 2022 05 4;166. Epub 2022 May 4.

LUMC, afd. Maag-, Darm- en Leverziekten, Leiden.

In 2021 it was 100 years since drPeutz published his case report titled: 'a very remarkable case of familial polyposis of mucous membranes of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane'. This is the first description of the Peutz-Jeghers syndrome, which is named after him. Like Peutz already suggested a century ago, we know now that this is a genetic disorder (autosomal dominant) caused by mutations in the STK11 gene. Read More

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Hypomelanosis of Ito.

Indian J Pediatr 2022 Jun 22. Epub 2022 Jun 22.

Child Development Clinic, Sir Ganga Ram Hospital, New Delhi, 110060, India.

Hypomelanosis of Ito is a rare neurocutaneous syndrome characterized by presence of hypopigmented skin lesions arranged in whorls and streaks following the lines of Blaschko and are often accompanied by abnormalities of the central nervous system, skeletal system, eyes and teeth. Additional symptoms include deafness, hemihypertrophy, cardiac abnormalities, renal malformations, and abnormalities of the genitourinary tract. Read More

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Dermatologic manifestations in paediatric neurofibromatosis type 2: a cross sectional descriptive multicentric study.

Orphanet J Rare Dis 2022 06 21;17(1):242. Epub 2022 Jun 21.

Department of Dermatology, CRMRP-Sud, ARCHET 2 Hospital, CHU de Nice, 151 route st Antoine de Ginestière, 06200, Nice, France.

Background: Neurofibromatosis type 2 (NF2) is characterized by bilateral vestibular schwannoma (VS) more often in adults but a severe paediatric form with multiple neurological tumours is also described. In this population, a early diagnosis is important to prevent the onset of neurological complications but is difficult, particularly without a familial history. Cutaneous manifestations, which may precede VS or neurological tumours by several years, may contribute to an early diagnosis, but specific studies are lacking. Read More

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The retinal pigmentation pathway in human albinism: Not so black and white.

Prog Retin Eye Res 2022 Jun 18:101091. Epub 2022 Jun 18.

Department of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, Location AMC, Amsterdam, the Netherlands; Emma Center for Personalized Medicine (ECPM), Amsterdam UMC, Location AMC, Amsterdam, the Netherlands; Department of Ophthalmology, Amsterdam UMC, Location AMC, Amsterdam, the Netherlands; The Netherlands Institute for Neuroscience (NIN-KNAW), Amsterdam, the Netherlands. Electronic address:

Albinism is a pigment disorder affecting eye, skin and/or hair. Patients usually have decreased melanin in affected tissues and suffer from severe visual abnormalities, including foveal hypoplasia and chiasmal misrouting. Combining our data with those of the literature, we propose a single functional genetic retinal signalling pathway that includes all 22 currently known human albinism disease genes. Read More

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Frontal Fibrosing Alopecia and Lichen Planus Pigmentosus: Variants of the Same Disea×se?

Actas Dermosifiliogr 2022 06 16;113(6):617-618. Epub 2021 Nov 16.

Departamento de Dermatología, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.

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Neurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestation.

BMJ Case Rep 2022 Jun 20;15(6). Epub 2022 Jun 20.

Department of Genetics, Kuala Lumpur General Hospital, Ministry of Health Malaysia, Kuala Lumpur, Wilayah Persekutuan, Malaysia.

Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) is a rare manifestation of Waardenburg-Shah syndrome associated with mutations in the gene. The phenotypic expression is variable, thus presenting a diagnostic challenge. Clinical manifestations of PCWH may mimic other neurocutaneous syndromes. Read More

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The Masquerading Retinopathy of Revesz Syndrome.

Ophthalmic Surg Lasers Imaging Retina 2022 06 1;53(6):346-348. Epub 2022 Jun 1.

Revesz syndrome is a rare telomeropathy characterized by bone marrow failure and exudative retinopathy. We report the case of a 2-year-old male child, initially treated with bilateral laser photocoagulation for retinopathy of prematurity. He developed exudative changes in the right eye, presumed to be Coats disease. Read More

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Stellate Hypopigmentation in a Pediatric Patient After Treatment with Intralesionally-Injected Corticosteroid.

Am J Case Rep 2022 Jun 20;23:e935898. Epub 2022 Jun 20.

Department of Pediatric Surgery, Dayton Children's Hospital, Dayton, OH, USA.

BACKGROUND Several factors contribute to keloids in post-operative patients, including skin mechanics, genetics, and inflammatory processes. One of the most widely used treatment modalities for keloidal scars involves the intralesional injection of corticosteroids, such as triamcinolone acetonide (TAC). TAC is a first-line treatment option for keloids due to its proven efficacy and effectiveness in reducing collagen synthesis, glycosaminoglycan synthesis, inflammatory processes, and proliferation of fibroblasts. Read More

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A Novel Missense Variant C.2571 (P.Ala857=) of the DHX38 Gene in a Saudi Family Causes an Autosomal Recessive Retinitis Pigmentosa.

Middle East Afr J Ophthalmol 2021 Oct-Dec;28(4):260-262. Epub 2022 Apr 30.

King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.

We present two cases of a novel missense variant mutation in the gene, which is associated with autosomal recessive retinitis pigmentosa (RP) in two Saudi sisters who presented with poor visual acuity since childhood. On initial examination, the best-corrected visual acuity was 20/300 in both eyes for the two sisters. Fundus examination revealed widespread retinal pigmentary changes, linear peripheral hyperpigmentation clumps, bone spicules, and bilateral optic nerve drusen with bilateral macular hyperpigmentation. Read More

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Esophageal Melanocytosis: report of two cases and review of a rare and misunderstood entity.

Acta Gastroenterol Belg 2022 Apr-Jun;85(2):390-392

Department of Pathology, Institut de Pathologie et de Génétique, Gosselies, Belgium.

Esophageal melanocytosis (EM) is a rare entity, which is characterized by a non-atypical melanocytic proliferation and melanin deposits in the esophageal mucosa. The confusion between the terms of melanosis and melanocytosis in the literature, the rarity of this lesion (less than 50 cases reported in the literature), its uncertain pathobiological course and the lack of experience of pathologists and gastroenterologists prompt us to draw the attention to this particular entity by reporting two cases and reviewing the literature. Magnifying endoscopy to observe intensive melanin accumulation followed by a biopsy are key for the diagnosis. Read More

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Blue Sclera and Retinal Hyperpigmentation in a Patient With Long-term Minocycline Use.

JAMA Ophthalmol 2022 Jun 16;140(6):e221848. Epub 2022 Jun 16.

University of Miami Miller School of Medicine, Miami, Florida.

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The effectiveness of tomato extract on superoxide dismutase (SOD) and severity degree of patients with melasma.

Ital J Dermatol Venerol 2022 Jun;157(3):262-269

Department of Dermatovenereology, Faculty of Medicine, Diponegoro University, Semarang, Indonesia.

Background: Melasma is present in 40% of cases in Southeast Asia. The condition is often unresponsive to therapy; treatment has variable success rates, and melasma has high recurrence rates. Lycopene-rich tomato extract is needed to avoid oxidative stress due to ultraviolet rays that cause melasma through the melanogenesis pathway. Read More

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Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases.

Invest Ophthalmol Vis Sci 2022 Jun;63(6):15

UCL Institute of Ophthalmology, University College London, London, United Kingdom.

Purpose: We investigated axial length (AL) distributions in inherited retinal diseases (IRDs), comparing them with reference cohorts.

Methods: AL measurements from IRD natural history study participants were included and compared with reference cohorts (TwinsUK, Raine Study Gen2-20, and published studies). Comparing with the Raine Study cohort, formal odds ratios (ORs) for AL ≥ 26 mm or AL ≤ 22 mm were derived for each IRD (Firth's logistic regression model, adjusted for age and sex). Read More

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An update on choroidal abnormalities and retinal microvascular changes in neurofibromatosis type 1.

Orphanet J Rare Dis 2022 06 13;17(1):223. Epub 2022 Jun 13.

Department of Sense Organs, Sapienza University of Rome, Policlinico Umberto I, Viale del Policlinico 155, 00161, Rome, Italy.

Neurofibromatosis Type 1 (NF1) is a rare neurocutaneous disorder transmitted in an autosomal dominant fashion, mainly affecting the nervous system, the eye and skin. Ocular diagnostic hallmarks of NF1 include iris Lisch nodules, optic gliomas, orbital and eyelid neurofibromas, eyelid café-au-lait spots. In recent years, a new ocular sign represented by choroidal abnormalities (CAs) has been characterized in NF1. Read More

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Revisiting the structural features of the xeroderma pigmentosum proteins: Focus on mutations and knowledge gaps.

Mutat Res Rev Mutat Res 2022 Jan-Jun;789:108416. Epub 2022 Mar 29.

Department of Theoretical Informatics, Institute of Informatics, Department of Theoretical Informatics, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil; Department of Genetics, Institute of Bioscience, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil; Department of Biophysics, Institute of Bioscience, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil. Electronic address:

The nucleotide excision repair pathway is a broadly studied DNA repair mechanism because impairments of its key players, the xeroderma pigmentosum proteins (XPA to XPG), are associated with multiple hereditary diseases. Due to the massive number of novel mutations reported for these proteins and new structural data published every year, proper categorization and discussion of relevant observations is needed to organize this extensive inflow of knowledge. This review aims to revisit the structural data of all XP proteins while updating it with the information developed in of the past six years. Read More

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CRISPR-AsCas12a Efficiently Corrects a Intronic Mutation in Induced Pluripotent Stem Cells from an Ocular Albinism Patient.

CRISPR J 2022 06;5(3):457-471

Department of Ophthalmology, UCLA School of Medicine, Jules Stein Eye Institute, Los Angeles, California, USA.

Mutations in the gene cause X-linked ocular albinism type 1 (OA1), a disease that severely impairs vision. We recently generated induced pluripotent stem cells (iPSCs) from skin fibroblasts of an OA1 patient carrying a point mutation in intron 7 of . This mutation activates a new splice site causing the incorporation of a pseudoexon. Read More

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Berardinelli-Seip Congenital Lipodystrophy - A Case Report and Review of Literature.

J Coll Physicians Surg Pak 2022 Jun;32(6):817-819

Department of Medicine, Fatima Memorial Hospital, College of Medicine and Dentistry, Lahore, Pakistan.

Berardinelli-Seip Congenital Lipodystrophy (BSCL), also known as congenital generalised lipodystrophy, is a genetic disorder where there is an absolute deficiency of adipose tissue. It affects the development of adipocytes and ultimately leads to an inability to store fat in adipocytes. It is extremely rare. Read More

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Endoscopic Therapy of Small Bowel Polyps by Single-Balloon Enteroscopy in Patients with Peutz-Jeghers Syndrome.

Int J Clin Pract 2022 1;2022:7849055. Epub 2022 Feb 1.

Department of Gastroenterology, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou, Zhejiang, China.

Background: Little is known about the efficacy and safety of single-balloon enteroscopy (SBE) in patients with Peutz-Jeghers syndrome (PJS). The aim of this study was to assess the efficacy and safety of SBE for the treatment of small bowel polyps in patients with PJS.

Methods: We conducted a single-center observational study, which included all patients diagnosed with PJS who underwent SBE for polypectomy between January 2018 and March 2021. Read More

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: A Rich Source of Pharmacological Active Compounds.

Molecules 2022 Jun 2;27(11). Epub 2022 Jun 2.

School of Chemical Engineering and Technology, North University of China, Taiyuan 030051, China.

(L.) Britton, an important pharmaceutical and nutraceutical crop, is widely cultivated in East Asian countries. In this review, we present the latest research findings on the phytochemistry and pharmacological activities of . Read More

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Worsening Quality of Life in Young Adult, Highly Educated, and Married Female Patients with Vitiligo: A Hospital-Based Case Control Study in Taiwan.

Int J Environ Res Public Health 2022 May 31;19(11). Epub 2022 May 31.

Department of Dermatology, Changhua Christian Hospital, Changhua 50006, Taiwan.

Vitiligo is an acquired chronic depigmentation disorder that can have a negative impact on the quality of life (QoL). This is especially true for patients with non-white skin. Only few studies have investigated the QoL of Asian patients with vitiligo. Read More

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Clinical characteristics of infants with port-wine stain and glaucoma secondary to Sturge-Weber Syndrome.

BMC Ophthalmol 2022 Jun 9;22(1):260. Epub 2022 Jun 9.

Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.

Background: Sturge-Weber Syndrome (SWS) is a rare disease involving the eye, skin, and brain. Port-wine stain (PWS) and glaucoma are common clinical manifestations. This study analysed the clinical characteristics of infants with PWS and glaucoma secondary to SWS. Read More

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Hydroxychloroquine induced melanosis.

Reumatol Clin (Engl Ed) 2022 Jun-Jul;18(6):377-378

Rheumatology Department, Centro Hospitalar de Vila Nova de Gaia e Espinho, Vila Nova de Gaia, Portugal.

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Oral mesotherapy technique for the treatment of physiologic gingival melanin hyperpigmentation using locally injectable vitamin C: a clinical and histologic cases series.

Quintessence Int 2022 Jun;53(7):580-588

Objectives: Vitamin C (ascorbic acid) is widely used in dermatology for skin depigmentation. However, there are very few clinical studies on the efficacy of vitamin C in gingival depigmentation. This preliminary case series aims to present the clinical effectiveness, histologic changes, and patient-reported outcomes of intra-epidermal vitamin C injections (oral mesotherapy) for managing patients with gingival melanin hyperpigmentation. Read More

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[The 495th case: young female-hyperandrogenemia-severe insulin resistance].

Zhonghua Nei Ke Za Zhi 2022 Jun;61(6):703-707

State Key Laboratory of Complex Severe and Rare Diseases, Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.

A 22-year-old female has complained of hirsutism, acanthosis nigricans, enlarged clitoris, and menstrual disorders since puberty. Laboratory examinations revealed hyperandrogenemia. Severe insulin resistance and diabetes were found during hospitalization in our hospital. Read More

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Maintenance Outcomes of the Children's Healthy Living Program on Overweight, Obesity, and Acanthosis Nigricans Among Young Children in the US-Affiliated Pacific Region: A Randomized Clinical Trial.

JAMA Netw Open 2022 Jun 1;5(6):e2214802. Epub 2022 Jun 1.

Department of Human Nutrition, Food and Animal Sciences, College of Tropical Agriculture and Human Resources, University of Hawai'i at Mānoa, Honolulu.

Importance: Few obesity prevention trials among children have demonstrated sustainable outcomes in the long term.

Objectives: To sustain a community-wide decrease in the prevalence of overweight and obesity among young children in the US-affiliated Pacific region.

Design, Setting, And Participants: In the Children's Healthy Living community-randomized clinical trial, hierarchical modeling comparing the change in intervention and control communities accounted for community randomization (community clustering with jurisdictions), and adjusted for the age and sex distribution of the assessed children in a cross-sectional design. Read More

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