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    Disruption of the Photoreceptor Inner Segment-Outer Segment Junction in a 6-Year-Old Girl with Joubert Syndrome.
    Neuroophthalmology 2017 Feb 19;41(1):19-23. Epub 2016 Oct 19.
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP) , Kodaira, Tokyo, Japan.
    Joubert syndrome (JS) is a spectrum of genetic disorders characterised by cerebellar and brainstem malformation called "molar tooth sign", resulting in hypotonia, developmental delay, and intellectual disability. Here we describe a young female JS patient with "salt-and-pepper" fundus and inner segment-outer segment junction (IS/OS line) discontinuity, with a lack of external limiting membrane. Ocular coherence tomography (OCT) detected blurred external retinal layers in the macula centre. Read More

    African ancestry is associated with facial melasma in women: a cross-sectional study.
    BMC Med Genet 2017 Feb 17;18(1):17. Epub 2017 Feb 17.
    Department of Dermatology, FMB-Unesp, Botucatu, SP, Brazil.
    Background: Melasma is a chronic acquired focal hypermelanosis affecting photoexposed areas, especially for women during fertile age. Several factors contribute to its development: sun exposure, sex steroids, medicines, and family history. Melanic pigmentation pathway discloses several SNPs in different populations. Read More

    Influence of Pregnancy on Vitiligo Activity.
    J Clin Aesthet Dermatol 2016 Dec 1;9(12):21-25. Epub 2016 Dec 1.
    Department of Dermatology, Loyola University, Stritch School of Medicine, Maywood, Illinois.
    Background: Vitiligo vulgaris, an acquired disease related to autoimmune activity directed against melanocytes, is a common disorder of pigmentation affecting up to one percent of the population. Several autoimmune disorders are reported to improve during pregnancy-a state of relative immunosuppression. Objectives: To assess self-reported changes in vitiligo disease activity that occurred during pregnancy. Read More

    The lactoferricin B-derived peptide, LfB17-34, induces melanogenesis in B16F10 cells.
    Int J Mol Med 2017 Mar 9;39(3):595-602. Epub 2017 Feb 9.
    Graduate Institute of Anatomy and Cell Biology, National Taiwan University College of Medicine, Taipei 100, Taiwan, R.O.C.
    Lactoferricin B (LfcinB), a peptide of bovine lactoferrin (LfB), exhibits multiple biological functions, including antimicrobial, antiviral, antioxidant and immunomodulatory activities. However, the role of LfcinB-related peptides in melanogenesis remains unclear. In this study, a set of five LfcinB-related peptides was examined. Read More

    Common Skin Conditions in Children: Noninfectious Rashes.
    FP Essent 2017 Feb;453:18-25
    University of North Carolina Chapel Hill School of Medicine Dermatology Residency Program, 410 Market St. Suite 400 CB#7715, Chapel Hill, NC 27516.
    Cutaneous adverse drug reactions are among the most common noninfectious rashes of childhood. Cutaneous adverse drug reactions are classified as morbilliform, urticarial, bullous, pustular, or psoriasiform. Atopic dermatitis is one of the most common inflammatory cutaneous eruptions, and is characterized by pruritus and flexural distribution. Read More

    Translucent appearance of middle cerebral artery bifurcation aneurysms is a risk factor for intraoperative aneurysm rupture during clipping.
    World Neurosurg 2017 Feb 8. Epub 2017 Feb 8.
    Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, P. R. China; China National Clinical Research Center for Neurological Diseases, Beijing, P. R. China; Center of Stroke, Beijing Institute for Brain Disorders, Beijing, P. R. China; Beijing Key Laboratory of Translational Medicine for Cerebrovascular Disease, Beijing, P. R. China.
    Introduction: The rupture rate of unruptured intracranial aneurysms (UIA) is influenced by certain angioarchitectural and hemodynamic characteristics. Recently the translucent appearance of aneurysm was described as a possible risk factor for aneurysm rupture. In this study, we investigate the intraoperative rupture risk of surgically clipped unruptured translucent aneurysms (TA). Read More

    The synergistic effect of maltose enhances the anti-melanogenic activity of acarbose.
    Arch Dermatol Res 2017 Feb 9. Epub 2017 Feb 9.
    AmorePacific Corporation R&D Center, Yongin, Gyeonggi-do, 446-729, South Korea.
    Melanocytes play an important role in maintaining epidermal homeostasis by producing melanin and protecting the skin from harmful environmental factors. However, excessive up- or down-regulation of melanin production often causes hyper- or hypo-pigmented disorders, respectively, which affect the patient's quality of life. Therefore, various strategies for modulating melanin levels have been developed by the pharmaceutical and cosmetic industries. Read More

    Assessment of skin pigmentation by confocal microscopy: Influence of solar exposure and protection habits on cutaneous hyperchromias.
    J Cosmet Dermatol 2017 Feb 3. Epub 2017 Feb 3.
    Faculty of Pharmaceutical Sciences of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.
    Background: Cutaneous hyperchromias are disorders of skin pigmentation involving an increase of melanin production and its irregular accumulation in skin cells. It is known that the use of sunscreens helps to prevent changes in the skin pigmentation pattern, but the structural and morphological alterations that occur in the different types of hyperpigmentations need better elucidation.

    Objective: To assess the influence of solar exposure and protection habits on the pattern of skin pigmentation using reflectance confocal microscopy (RCM). Read More

    Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
    Am J Hum Genet 2017 Feb;100(2):364-370
    St John's Institute of Dermatology, King's College London (Guy's Campus), London SE1 9RT, UK; Centre for Dermatology and Genetic Medicine, Division of Molecular Medicine, University of Dundee, Dundee DD1 5EH, UK. Electronic address:
    SPG23 is an autosomal-recessive neurodegenerative subtype of lower limb spastic paraparesis with additional diffuse skin and hair dyspigmentation at birth followed by further patchy pigment loss during childhood. Previously, genome-wide linkage in an Arab-Israeli pedigree mapped the gene to an approximately 25 cM locus on chromosome 1q24-q32. By using whole-exome sequencing in a further Palestinian-Jordanian SPG23 pedigree, we identified a complex homozygous 4-kb deletion/20-bp insertion in DSTYK (dual serine-threonine and tyrosine protein kinase) in all four affected family members. Read More

    CLINICAL PROFILE AND TRIGGERING FACTORS FOR ACQUIRED, BILATERAL NEVUS OF OTA-LIKE MACULES.
    Cutan Ocul Toxicol 2017 Jan 25:1-14. Epub 2017 Jan 25.
    a Affiliated Hospital of Nanjing University of Chinese Medicine , Nanjing , China.
    BACKGROUD Acquired, bilateral nevus of Ota-like macules (ABNOM) is one of the most common dermal melanocytoses. Although there are some literatures on ABNOM, its clinical features and etiopathogenetic factors have not been fully understood. OBJECTIVE To determine the prevalence and characteristics of ABNOM among the Chinese patients. Read More

    Prospect of Human Pluripotent Stem Cell-Derived Neural Crest Stem Cells in Clinical Application.
    Stem Cells Int 2016 20;2016:7695836. Epub 2016 Dec 20.
    Faculty of Dentistry, National University of Singapore, Singapore 119083; National University of Singapore Graduate School for Integrative Sciences and Engineering, National University of Singapore, Singapore 117456; National University of Singapore Tissue Engineering Program (NUSTEP), Life Sciences Institute, National University of Singapore, Singapore 117510.
    Neural crest stem cells (NCSCs) represent a transient and multipotent cell population that contributes to numerous anatomical structures such as peripheral nervous system, teeth, and cornea. NCSC maldevelopment is related to various human diseases including pigmentation abnormalities, disorders affecting autonomic nervous system, and malformations of teeth, eyes, and hearts. As human pluripotent stem cells including human embryonic stem cells (hESCs) and human induced pluripotent stem cells (hiPSCs) can serve as an unlimited cell source to generate NCSCs, hESC/hiPSC-derived NCSCs can be a valuable tool to study the underlying mechanisms of NCSC-associated diseases, which paves the way for future therapies for these abnormalities. Read More

    Pharmacokinetics and Pharmacodynamics of Afamelanotide and its Clinical Use in Treating Dermatologic Disorders.
    Clin Pharmacokinet 2017 Jan 6. Epub 2017 Jan 6.
    Stadtspital Triemli, Institute of Laboratory Medicine, Zurich, Switzerland.
    Afamelanotide, the first α-melanocyte-stimulating hormone (MSH) analogue, synthesized in 1980, was broadly investigated in all aspects of pigmentation because its activity and stability were higher than the natural hormone. Afamelanotide binds to the melanocortin-1 receptor (MC1R), and MC1R signaling increases melanin synthesis, induces antioxidant activities, enhances DNA repair processes and modulates inflammation. The loss-of-function variants of the MC1R present in fair-skinned Caucasians are less effectively activated by the natural hormone. Read More

    A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk.
    J Alzheimers Dis 2017 ;56(3):1065-1074
    Dermatology Department, Melanoma Unit, Hospital Clinic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain.
    Despite the recent identification of some novel risk genes for Alzheimer's disease (AD), the genetic etiology of late-onset Alzheimer's disease (LOAD) remains largely unknown. The inclusion of these novel risk genes to the risk attributable to the APOE gene accounts for roughly half of the total genetic variance in LOAD. The evidence indicates that undiscovered genetic factors may contribute to AD susceptibility. Read More

    Recent Updates On Melanocyte Biology And The Use Of Promising Bioactive Compounds For The Treatment Of Hypopigmentary Disorders: A Review.
    Mini Rev Med Chem 2016 Dec 23. Epub 2016 Dec 23.
    Departments of Physiology and Biotechnology, Saifia Science College, Bhopal (MP)-462001, India.
    Skin pigmentation is a broadly appearing phenomenon in nature which plays an important task of determining the appearance and biology of all vertebrates including human beings. Skin color is a crucial attribute, determined by the synthesis of melanin pigment within melanocytes by the process of melanogenesis and is regulated by many extrinsic as well as intrinsic factors. Tyrosinase catalyzes the key step of melanogenesis, dysfunction of tyrosinase leads to reduce melanin production which results in severe clinical and aesthetical problems of hypopigmentation. Read More

    Dysfunction of Autophagy: A Possible Mechanism Involved in the Pathogenesis of Vitiligo by Breaking the Redox Balance of Melanocytes.
    Oxid Med Cell Longev 2016 29;2016:3401570. Epub 2016 Nov 29.
    Department of Dermatology, Huashan Hospital, Fudan University, Shanghai, China.
    Vitiligo is a common chronic acquired pigmentation disorder characterized by loss of functional melanocytes from the epidermis and follicular reservoir. Among multiple hypotheses which have been proposed in the pathogenesis of vitiligo, autoimmunity and oxidative stress-mediated toxicity in melanocytes remain most widely accepted. Macroautophagy is a lysosome-dependent degradation pathway which widely exists in eukaryotic cells. Read More

    Coexistence of erythema dyschromicum perstans and vitiligo: a case report and review of the literature.
    Acta Dermatovenerol Alp Pannonica Adriat 2016 Dec;25(4):77-78
    Medical Park Hastanesi, Yenimahalle, Ankara, Turkey.
    Erythema dyschromicum perstans is a rare, chronic, pigmentary disorder with unknown etiology. It clinically presents with oval to round, gray, blue, or brown macules of various sizes. The etiology remains unknown; however, cobalt allergy, radio contrast media, intestinal parasites, human immunodeficiency virus, and hypothyroidism have been proposed as causative factors. Read More

    Pediatric disorders of pigmentation commonly seen in skin of color.
    Semin Cutan Med Surg 2016 Dec;35(4):191-200
    Department of Dermatology, Cleveland Clinic, Cleveland, Ohio, USA.
    There are certain disorders of hyper- and hypopigmentation that are more common in children with skin of color. It is imperative that practitioners can swiftly and accurately diagnose these pigmentary disorders to prevent delay in treatment and enhance quality of life. Pigmentary disorders have many etiologies and may present similarly in the clinical setting; however treatment varies widely and is dependent on accurate diagnosis. Read More

    Common conditions in skin of color.
    Semin Cutan Med Surg 2016 Dec;35(4):184-190
    The Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, New York, USA.
    The skin of color population is rapidly growing in the United States. This population has numerous unique and more commonly occurring dermatologic conditions. Additionally, certain cutaneous conditions can present differently in darker versus lighter skin types. Read More

    Improving the clinical management of traumatic brain injury through the pharmacokinetic modeling of peripheral blood biomarkers.
    Fluids Barriers CNS 2016 Nov 30;13(1):21. Epub 2016 Nov 30.
    Flocel Inc., Cleveland, OH, 44103, USA.
    Background: Blood biomarkers of neurovascular damage are used clinically to diagnose the presence severity or absence of neurological diseases, but data interpretation is confounded by a limited understanding of their dependence on variables other than the disease condition itself. These include half-life in blood, molecular weight, and marker-specific biophysical properties, as well as the effects of glomerular filtration, age, gender, and ethnicity. To study these factors, and to provide a method for markers' analyses, we developed a kinetic model that allows the integrated interpretation of these properties. Read More

    Lichen Planus Pigmentosus: A study for association of Thyroid Dysfunction.
    Kathmandu Univ Med J (KUMJ) 2016 Jan-Mar;14(53):36-40
    Department of Dermatology, Dhulikhel Hospital, Kathmandu University Hospital, Dhulikhel, Kavre, Nepal.
    Background Lichen planus pigmentosus (LPP) is considered a chronic and progressive variant of lichen planus. Although pigmentation occurs in the sun exposed areas, the etiology remains unknown and there are no appropriate treatment guidelines. Association with thyroid disorder has been described in various disorders of pigmentation. Read More

    A novel P53/POMC/Gαs/SASH1 autoregulatory feedback loop activates mutated SASH1 to cause pathologic hyperpigmentation.
    J Cell Mol Med 2016 Nov 25. Epub 2016 Nov 25.
    Children's Hospital and Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
    p53-Transcriptional-regulated proteins interact with a large number of other signal transduction pathways in the cell, and a number of positive and negative autoregulatory feedback loops act upon the p53 response. P53 directly controls the POMC/α-MSH productions induced by ultraviolet (UV) and is associated with UV-independent pathological pigmentation. When identifying the causative gene of dyschromatosis universalis hereditaria (DUH), we found three mutations encoding amino acid substitutions in the gene SAM and SH3 domain containing 1 (SASH1), and SASH1 was associated with guanine nucleotide-binding protein subunit-alpha isoforms short (Gαs). Read More

    Anti-Freckles Herbal Treatment in Iranian Traditional Medicine.
    Iran J Med Sci 2016 May;41(3 Suppl):S22
    Traditional Medicine and Materia Medica Research Center and Department of Traditional Pharmacy, School of Traditional Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Background: Freckles are numerous pigmented spots of the skin, mainly confined to the face, even arms and back. Although freckles are light-brown macules, most frequently observed in individuals with red or blond hair, they are common to Asian people too. Freckles increase in number, size, and depth of pigmentation during the summer months. Read More

    Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.
    Eur J Med Genet 2017 Feb 9;60(2):93-99. Epub 2016 Nov 9.
    Dipartimento di Fisica e Chimica, Università degli Studi di Palermo, Palermo, Italy.
    Neurofibromatosis type 1 (NF1) is caused by mutations of the NF1 gene and is one of the most common human autosomal dominant disorders. The patient shows different signs on the skin and other organs from early childhood. The best known are six or more café au lait spots, axillary or inguinal freckling, increased risk of developing benign nerve sheath tumours and plexiform neurofibromas. Read More

    Inhibitory effect of 660-nm LED on melanin synthesis in in vitro and in vivo.
    Photodermatol Photoimmunol Photomed 2017 Jan 3;33(1):49-57. Epub 2016 Nov 3.
    Department of Dermatology, Chung-Ang University College of Medicine, Seoul, Korea.
    Background: Skin hyperpigmentary disorders including postinflammatory hyperpigmentation, melasma, solar lentigines, and conditions like freckles are common. The light-emitting diodes (LEDs) are the latest category of nonthermal and noninvasive phototherapy to be considered in skin pigmentation disorder treatment.

    Purpose: The purpose of this study was to investigate the effects of 660-nm LED on inhibition of melanogenesis. Read More

    Interventions for Vitiligo.
    JAMA 2016 Oct;316(16):1708-1709
    ISGlobal, Centre for Research in Environmental Epidemiology, Barcelona, Spain.
    Clinical Question: Which interventions are associated with highest efficacy and fewest adverse events for treating vitiligo?

    Bottom Line: Combination therapies, particularly those involving some form of light (ie, narrowband UV-B) were associated with more improved repigmentation than monotherapies. There was limited evidence to support the association of UV-A alone and UV-B alone with repigmentation for vitiligo. There was moderate evidence to support the association of UV-A and UV-B, when used in combination with psoralens, topical corticosteroids, vitamin D analogues, fluorouracil, azathioprine, and oral prednisolone with improved outcomes for vitiligo. Read More

    Epidermal hydrogen peroxide is not increased in lesional and non-lesional skin of vitiligo.
    Arch Dermatol Res 2017 Jan 25;309(1):31-42. Epub 2016 Oct 25.
    The Clinical and Experimental Dermatology Unit, King Fahad Medical Research Center, King Abdulaziz University Medical Center, Jeddah, 21589, Saudi Arabia.
    It is widely believed that the loss of the epidermal melanocytes in vitiligo is basically due to excessive oxidative stress. Previous research work described abnormal elevation of the absolute concentration of the epidermal hydrogen peroxide (H2O2) in lesional and non-lesional skin of vitiligo. Based on this finding, our primary research objective was to use this feature as a screening marker in individuals at a great risk of developing vitiligo. Read More

    Insights into tyrosinase inhibition by compounds isolated from Greyia radlkoferi Szyszyl using biological activity, molecular docking and gene expression analysis.
    Bioorg Med Chem 2016 Nov 22;24(22):5953-5959. Epub 2016 Sep 22.
    Department of Plant and Soil Sciences, University of Pretoria, Pretoria 0002, South Africa.
    Greyia radlkoferi ethanol extract and its five compounds were tested for their inhibitory activity against the mushroom tyrosinase enzyme and melanin production on melanocytes. The crude extract showed significant tyrosinase inhibition with IC50 of 17.96μg/ml. Read More

    Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).
    Mol Med Rep 2016 Nov 22;14(5):4023-4029. Epub 2016 Sep 22.
    Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
    Multiple café-au-lait macules (CALM) are usually associated with neurofibromatosis type 1 (NF1), one of the most common hereditary disorders. However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling pathways, including KIT ligand/KIT proto‑oncogene receptor tyrosine kinase and Ras/mitogen‑activated protein kinase. These disorders, which include Legius syndrome, Noonan syndrome with multiple lentigines or LEOPARD syndrome, and familial progressive hyperpigmentation) are difficult to distinguish from NF1 at early stages, using skin appearance alone. Read More

    A del(13)(q21.32q31.2)dn refined to 21.9 Mb in a female toddler with irides heterochromia and hypopigmentation: appraisal of interstitial mid-13q deletions.
    Clin Dysmorphol 2017 Jan;26(1):33-37
    aDepartamento de Bioqui[Combining Acute Accent]mica y Medicina Molecular, Facultad de Medicina bCentro de Investigacio[Combining Acute Accent]n Biome[Combining Acute Accent]dica de Occidente, Divisio[Combining Acute Accent]n de Gene[Combining Acute Accent]tica, Instituto Mexicano del Seguro Social cCONACYT & Subdirección de Investigaciones Clínicas, Instituto Nacional de Psiquiatría 'Ramón de la Fuente Muñiz' dDepartment of Neurology, Faculty of Medicine and University Hospital 'Dr Jose E. Gonzalez', Mexico City eDepartamento de Gene[Combining Acute Accent]tica, Facultad de Medicina, Universidad Auto[Combining Acute Accent]noma de Guadalajara, Guadalajara fDepartment of Clinical Medicine, Center of Functionally Integrative Neuroscience, University of Aarhus, Denmark.

    Eruptive Facial Postinflammatory Lentigo: Clinical and Dermatoscopic Features.
    Am J Dermatopathol 2016 Nov;38(11):813-819
    *Department of Dermatology, Clínica Alemana de Santiago, Chile; †Melanoma Unit, Department of Dermatology, Hospital Clinic of Barcelona, Barcelona, Spain; ‡Department of Pathology, Clínica Alemana de Santiago, Chile; §Department of Medicine, Hospital de Carabineros de Chile, Chile; and ¶Department of Dermatology, Universidad del Desarrollo, Chile.
    The face has not been considered a common site of fixed drug eruption, and the authors lack dermatoscopic studies of this condition on the subject. The authors sought to characterize clinical and dermatoscopic features of 8 cases of an eruptive facial postinflammatory lentigo. The authors conducted a retrospective review of 8 cases with similar clinical and dermatoscopic findings seen from 2 medical centers in 2 countries during 2010-2014. Read More

    [Woman 19-old with hirsutism, obesity and acanthosis nigricans].
    Pol Merkur Lekarski 2016 Sep;41(243):141-144
    Medical University of Warsaw, Poland: Student's Scientific Circle "Endocrinus", Department of Internal Medicine and Endocrinology.
    19-year-old hirsute woman with obesity, skin lesions with features of acanthosis nigricans around neck, armpits, thoracic cage and wrists escalating for couple of months, elevated testosterone and insulin plasma levels was admitted to hospital to perform diagnostic approach. The final diagnosis was hyperandrogenism-insulin resistance-acanthosis nigricans syndrome (HAIR-AN syndrome), considered as a subtype of policystic ovary syndrome (PCOS) and impaired glucose tolerance. HAIR-AN is characterized by coexistence of: hyperandrogenism (HA), insulin resistance (IR) and acanthosis nigricans (AN). Read More

    Adult Onset Vitiligo: Multivariate Analysis Suggests the Need for a Thyroid Screening.
    Biomed Res Int 2016 22;2016:8065765. Epub 2016 Sep 22.
    Department of Surgery and Translational Medicine, Section of Dermatology, University of Florence, Florence, Italy.
    Background. There are limited epidemiological studies evaluating the effect of age at onset on disease features in vitiligo. Objectives. Read More

    Autophagy deficient melanocytes display a senescence associated secretory phenotype that includes oxidized lipid mediators.
    Int J Biochem Cell Biol 2016 Dec 11;81(Pt B):375-382. Epub 2016 Oct 11.
    Department of Dermatology, Medical University of Vienna, Währinger Grürtel 18-20, 1090 Vienna, Austria; Christian Doppler Laboratory for the Biotechnology of Skin Aging, Vienna, Austria. Electronic address:
    Autophagy is a recycling program which allows cells to adapt to metabolic needs and to stress. Defects in autophagy can affect metabolism, aging, proteostasis and inflammation. Autophagy pathway genes, including autophagy related 7 (Atg7), have been associated with the regulation of skin pigmentation, and autophagy defects disturb the biogenesis and transport of melanosomes in melanocytes as well as transfer and processing of melanin into keratinocytes. Read More

    Low-concentration hydrogen peroxide can upregulate keratinocyte intracellular calcium and PAR-2 expression in a human keratinocyte-melanocyte co-culture system.
    Arch Dermatol Res 2016 Dec 8;308(10):723-731. Epub 2016 Oct 8.
    Department of Dermatology, Huashan Hospital of Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200433, China.
    Hydrogen peroxide (H2O2) may have a biphasic effect on melanin synthesis and melanosome transfer. High H2O2 concentrations are involved in impaired melanosome transfer in vitiligo. However, low H2O2 concentration promotes the beneficial proliferation and migration of melanocytes. Read More

    Atlas of human diseases influenced by genetic variants with extreme allele frequency differences.
    Hum Genet 2017 Jan 3;136(1):39-54. Epub 2016 Oct 3.
    Department of Microbiology and Molecular Genetics, University of Vermont, Burlington, VT, 05405, USA.
    Genetic variants with extreme allele frequency differences (EAFD) may underlie some human health disparities across populations. To identify EAFD loci, we systematically analyzed and characterized 81 million genomic variants from 2504 unrelated individuals of 26 world populations (phase III of the 1000 Genomes Project). Our analyses revealed a total of 434 genes, 15 pathways, and 18 diseases and traits influenced by EAFD variants from five continental populations. Read More

    Downregulation of melanogenesis: drug discovery and therapeutic options.
    Drug Discov Today 2017 Feb 28;22(2):282-298. Epub 2016 Sep 28.
    College of Pharmacy and Institute of Drug Research and Development, Chungnam National University, Daejeon 34134, South Korea.
    Melanin, primarily responsible in humans for hair, eye and skin pigmentation, is produced by melanocytes through a process called melanogenesis. However, the abnormal accumulation of melanin causes dermatological problems such as café-au-lait macules ephelides (freckles), solar lentigo (age spots) and melasma, as well as cancer and vitiligo. Hence the regulation of melanogenesis is very important for treating hyperpigmentary disorders. Read More

    Skin Hyperpigmentation in Indian Population: Insights and Best Practice.
    Indian J Dermatol 2016 Sep-Oct;61(5):487-95
    Department of Dermatology, Leprology and Venereology, Topiwala National Medical College and B. Y. L. Nair Charitable Hospital, Mumbai, Maharashtra, India.
    Skin pigmentation is one of the most strikingly variable phenotypes in humans, therefore making cutaneous pigmentation disorders frequent symptoms manifesting in a multitude of forms. The most common among them include lentigines, postinflammatory hyperpigmentation, dark eye circles, and melasma. Variability of skin tones throughout the world is well-documented, some skin tones being reported as more susceptible to pigmentation disorders than others, especially in Asia and India. Read More

    Enhanced Th1 and Th17 responses in peripheral blood in active non-segmental vitiligo.
    Arch Dermatol Res 2016 Dec 29;308(10):703-710. Epub 2016 Sep 29.
    Department of Dermatology and Venereology, The First Hospital of Jilin University, Changchun, Jilin Province, China.
    Accumulating studies have indicated that vitiligo, especially non-segmental vitiligo (NSV), is one kind of autoimmune diseases and CD4(+) T cells play important roles in the pathogenesis. However, there have been very limited data on the detailed changes of each of the CD4(+) T cell subsets in periphery in active NSV. To clarify this issue, we collected the peripheral blood mononuclear cells (PBMCs) from 30 patients with active NSV and 30 age- and sex-matched healthy controls. Read More

    Correlation of Lipid Profile and Risk of Developing Type 2 Diabetes Mellitus in 10-14 Year Old Children.
    Cell Physiol Biochem 2016 19;39(5):1695-1704. Epub 2016 Sep 19.
    Department of Pediatrics, University of North Texas Health Science Center, Fort Worth, TX, USA.
    Background/aims: The role of lipid profile in predicting the risk of Type 2 diabetes mellitus (T2DM) in children is not clearly established. Our aim is to screen non-diabetic children aged 10-14 years for risk of developing T2DM and evaluate the association of abnormal lipids and socioeconomic status (SES).

    Methods: Data on race/ethnicity, family history, body mass index percentile, blood pressure and presence of neck pigmentation (acanthosis nigricans) were collected from 149 non-diabetic children. Read More

    [Ito hypomelanosis: Four case reports].
    Arch Pediatr 2016 Oct 15;23(10):1050-1054. Epub 2016 Sep 15.
    Service de neurologie, CHU Fann, BP 5035, Dakar, Sénégal.
    Ito hypomelanosis is a rare neurocutaneous condition. We report on four observations in infants aged between 8 and 20 months. They all presented with epilepsy, psychomotor delay, and diffuse hypomelanosis. Read More

    Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.
    Eur J Med Genet 2016 Oct 12;59(10):507-11. Epub 2016 Sep 12.
    Centre de génomique humaine, Faculté de médecine et pharmacie, Mohammed V University in Rabat, 10100, Morocco; Département de génétique médicale, Institut National d'Hygiène, BP 769 Agdal, 10090 Rabat, Morocco.
    Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It is the mildest form known to date of peroxisome biogenesis disorder caused by hypomorphic mutations of PEX1 and PEX6 genes. We report on a second Moroccan family with Heimler syndrome with early onset, severe visual impairment and important phenotypic overlap with Usher syndrome. Read More

    Prevalence of obesity and acanthosis nigricans among young children in the children's healthy living program in the United States Affiliated Pacific.
    Medicine (Baltimore) 2016 Sep;95(37):e4711
    aUniversity of Hawaii at Manoa, Honolulu bUniversity of Alaska, Fairbanks cNorthern Marianas College, Saipan dUniversity of Guam, Mangilao.
    Estimate prevalence of obesity and acanthosis nigricans (AN) among children in United States Affiliated Pacific (USAP) jurisdictions.Cross-sectional measurement of weight, height, and AN in 5775, 2 to 8 years old in 51 communities-Hawai'i, Alaska, Commonwealth of the Northern Mariana Islands, Guam, American Samoa, Palau, Republic of the Marshall Islands (RMI), 4 Federated States of Micronesia (Pohnpei, Yap, Kosrae, Chuuk). Analyses weighted to jurisdiction-specific sex and age distributions accounting for clustering of communities within jurisdictions. Read More

    Developmental Neurotoxic Effects of Percutaneous Drug Delivery: Behavior and Neurochemical Studies in C57BL/6 Mice.
    PLoS One 2016 8;11(9):e0162570. Epub 2016 Sep 8.
    State Key Laboratory of Natural Medicines, China Pharmaceutical University, Nanjing, China.
    Dermatosis often as a chronic disease requires effective long-term treatment; a comprehensive evaluation of mental health of dermatology drug does not receive enough attention. An interaction between dermatology and psychiatry has been increasingly described. Substantial evidence has accumulated that psychological stress can be associated with pigmentation, endocrine and immune systems in skin to create the optimal responses against pathogens and other physicochemical stressors to maintain or restore internal homeostasis. Read More

    Resolution of Acanthosis Nigricans Following Curative Gastric Carcinoma Resection.
    Clin Ter 2016 Jul-Aug;167(4):99-100
    Minimally Invasive, Upper Gastrointestinal and Bariatric Surgery Unit, Department of Surgery, Universiti Kebangsaan Malaysia Medical Centre (UKMMC), Kuala Lumpur, Malaysia.
    We discuss a 48-year old, who presented with upper epigastrium pain associated with early satiety and significant weight loss. Physical examination revealed a thickening and darkening of skins around the skin folds, scalp, back and front of abdomen. A diagnosis of gastro-esophageal junction adenocarcinoma was confirmed by oesophagogastroduodenoscopy (OGDS) and biopsy. Read More

    The effect of the NMDA receptor-dependent signaling pathway on cell morphology and melanosome transfer in melanocytes.
    J Dermatol Sci 2016 Dec 24;84(3):296-304. Epub 2016 Aug 24.
    Dermatology Department of 1st Affiliated Hospital, Dalian Medical University, Dalian, Liaoning, China. Electronic address:
    Background: The pigmentation of skin and hair in mammals is driven by the intercellular transfer of melanosome from the melanocyte to surrounding keratinocytes However, the detailed molecular mechanism is still a subject of investigation.

    Objective: To investigate the effects of N-methyl-d-aspartate (NMDA) receptor-dependent signaling pathway on melanocyte morphologic change and melanosome transfer between melanocytes and keratinocytes.

    Methods: The expression and the intracellular distribution of NMDA receptor in human melanocyte were analyzed by Western blot and immunofluorescence staining. Read More

    [Advance in research on causative genes of xeroderma pigmentosum and related diseases].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2016 Oct;33(5):708-12
    Department of Dermatology, Fengxian Institute of Dermotosis Prevention, Shanghai 201408, China; Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University Medical School, Shanghai 200092, China. Email:
    Ultraviolet light(UV)-sensitive disorders refer to a group of diseases due to damages to the nucleotide excision repair mechanism which cannot effectively repair DNA damage caused by ultraviolet radiation. The inheritance pattern of such diseases, mainly including xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy, is autosomal recessive and known to involve 13 genes. As proteins encoded by such genes are involved in DNA repair and transcription pathways. Read More

    [Identification of a novel KIT mutation in a Chinese family affected with piebaldism].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2016 Oct;33(5):637-40
    Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100005, China; Institute for Science and Technology Research of Chongqing Population and Family Planning, Chongqing 400020, China; Department of Dermatology, Air Force General Hospital, Beijing 100142, China, Email:
    Objective: To identify the pathogenic mutation underlying piebaldism in a Chinese family.

    Methods: A three-generation family showing an autosomal dominant transmission of piebaldism was recruited. Potential mutations of the KIT and SNAI2 genes were detected by PCR-amplification of the exons and exon-intron boundaries and direct sequencing. Read More

    Syndromic Gastric Polyps: At the Crossroads of Genetic and Environmental Cancer Predisposition.
    Adv Exp Med Biol 2016;908:347-69
    Department of Pathology, The Johns Hopkins University School of Medicine, 401 N Broadway Weinberg 2242, Baltimore, MD, 21231, USA.
    Gastric polyps occur in 1-4 % of patients undergoing gastroscopy. Although most are sporadic, some gastric polyps are part of an underlying hereditary syndrome. Gastric polyps can be seen in each of the well-known gastrointestinal polyposis syndromes, but also in Lynch syndrome and in several rare not primarily gastrointestinal syndromes. Read More

    Effect of fluoroquinolones on melanogenesis in normal human melanocytes HEMn-DP: a comparative in vitro study.
    Cutan Ocul Toxicol 2016 Sep 28:1-7. Epub 2016 Sep 28.
    a Department of Pharmaceutical Chemistry , Medical University of Silesia in Katowice , Sosnowiec , Poland.
    Purpose: Fluoroquinolones are one of the most commonly prescribed classes of antibiotics. However, their use is often connected with high risk of phototoxic reactions that lead to various skin or eye disorders. The aim of this study was to examine the effect of ciprofloxacin, lomefloxacin, moxifloxacin and fluoroquinolone derivatives with different phototoxic potential, on the viability and melanogenesis in melanocytes. Read More

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