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    33946 results match your criteria Hypomelanosis of Ito

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    Odorants could elicit repair processes in melanized neuronal and skin cells.
    Neural Regen Res 2017 Sep;12(9):1401-1404
    Department of Chemistry and Pharmaceutical Sciences, University of Ferrara, Ferrara, Italy.
    The expression of ectopic olfactory receptors (ORs) in melanized cells, such as the human brain nigrostriatal dopaminergic neurons and skin melanocytes, is here pointed out. ORs are recognized to regulate skin melanogenesis, whereas OR expression in the dopaminergic neurons, characterized by accumulation of pigment neuromelanin, is downregulated in Parkinson's disease. Furthermore, the correlation between the pigmentation process and the dopamine pathway through α-synuclein expression is also highlighted. Read More

    Restoration of skin pigmentation after deep partial or full-thickness burn injury.
    Adv Drug Deliv Rev 2017 Oct 24. Epub 2017 Oct 24.
    Burns and Reconstructive Surgery Unit, Concord Repatriation General Hospital, Concord, New South Wales 2139, Australia.
    Significant skin pigmentation changes occur when patients suffer deep burn injuries. These pigmentation disorders may cause not only cosmetic and psychological issues, but more importantly it increases the risk of skin cancer or photoaging. Severe burns significantly effect on the process of repigmentation as the pigmentation is tightly regulated by cell proliferation and differentiation of melanocytes and melanocyte stem cells which are housing in the epidermis and hair follicles of the skin. Read More

    Considerations When Treating Cosmetic Concerns in Men of Color.
    Dermatol Surg 2017 Nov;43 Suppl 2:S140-S150
    *Department of Dermatology, The George Washington Medical Faculty Associates, Washington, DC; †Department of Dermatology, The George Washington University School of Medicine and Health Sciences, Washington, DC; ‡Department of Dermatology, Georgetown University School of Medicine, Washington, DC; §Division of Dermatology, University of California, Los Angeles, California.
    Background: Men of color include a diverse population encompassing individuals with Fitzpatrick skin Types IV through VI. Yet, there is a paucity of data describing the cosmetic concerns of this population.

    Objective: To review the basic science of advantages and disadvantages of skin of color and pathophysiology, incidence, and treatment of disorders of cosmetic concern in men of color. Read More

    The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA.
    Mol Vis 2017 10;23:695-706. Epub 2017 Oct 10.
    Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA.
    Purpose: To describe in detail cases with an initial diagnosis of Leber congenital amaurosis that were later found to have a hemizygous mutation in the CACNA1F gene.

    Methods: The patients underwent a detailed ophthalmological evaluation and full-field electroretinography (ERG). Selective targeted capture and whole-exome next-generation sequencing (NGS) were used to find the disease-causing mutations. Read More

    Defining the actinic keratosis field: a literature review and discussion.
    J Eur Acad Dermatol Venereol 2017 Oct 21. Epub 2017 Oct 21.
    Dermatology Unit, Virgen Macarena University Hospital, Seville, Spain.
    Background: Despite the chronic and increasingly prevalent nature of actinic keratosis (AK) and existing evidence supporting assessment of the entire cancerization field during clinical management, a standardized definition of the AK field to aid in the understanding and characterization of the disease is lacking.

    Objectives: The objective of this review is to present and appraise the available evidence describing the AK cancerization field, with the aim of determining a precise definition of the AK field in terms of its molecular (including genetic and immunological), histological, and clinical characteristics.

    Methods: Eight European dermatologists collaborated to conduct a review and expert appraisal of articles detailing the characteristics of the AK field. Read More

    Effects of a non-cyclodextrin cyclic carbohydrate on mouse melanoma cells: Characterization of a new type of hypopigmenting sugar.
    PLoS One 2017 18;12(10):e0186640. Epub 2017 Oct 18.
    R&D Center, Hayashibara Co., Ltd., Okayama, Japan.
    Cyclic nigerosyl nigerose (CNN) is a cyclic tetrasaccharide that exhibits properties distinct from other conventional cyclodextrins. Herein, we demonstrate that treatment of B16 melanoma with CNN results in a dose-dependent decrease in melanin synthesis, even under conditions that stimulate melanin synthesis, without significant cytotoxity. The effects of CNN were prolonged for more than 27 days, and were gradually reversed following removal of CNN. Read More

    Morphologic and Elemental Analysis of Primary Melanosis of the Dentate Nucleus: Review and Correlation With Neuromelanin.
    J Neuropathol Exp Neurol 2017 Nov;76(11):949-956
    Department of Pathology, School of Medicine, University of South Florida-Morsani, Tampa, Florida; Medical College of Georgia, Augusta University, Augusta, Georgia.
    Primary melanosis of the dentate nucleus is a rarely described entity with neither known cause nor definitive clinicopathologic correlation. We revisit this previously reported phenomenon by presenting one such case with a review of the pathology as well as additional investigations including elemental analysis by energy-dispersive X-ray, immunohistochemistry and electron microscopy. The lesion presented macroscopically as a sharply defined, black pigmentation that was restricted to the dentate nucleus of the cerebellum. Read More

    A 23-Nucleotide Deletion in STK11 Gene Causes Peutz-Jeghers Syndrome and Malignancy in a Chinese Patient Without a Positive Family History.
    Dig Dis Sci 2017 Nov 6;62(11):3014-3020. Epub 2017 Oct 6.
    Department of Medical Genetics, Naval Medical University, 800 Xiangyin Rd., Shanghai, 200433, China.
    Background And Aims: Peutz-Jeghers syndrome (PJS) is an autosomal-dominant genetic disease caused by mutations in the tumor suppressor gene, STK11, which is characterized by gastrointestinal hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing both gastrointestinal and extraintestinal malignancies.

    Methods And Results: We treated a PJS patient without a positive family history, who possessed typical clinical manifestations including polyp canceration. In order to explore the genotype of this patient, blood samples were collected from all the available family members. Read More

    [Vitiligo revealing Vogt -Koyanagi-Harada disease].
    Pan Afr Med J 2017 24;27:220. Epub 2017 Jul 24.
    Service de Dermatologie-Vénéréologie, Hôpital Militaire d'Instruction Mohammed V, Rabat, Maroc.
    Vitiligo is a chronic auto-immune skin disease, often associated or discovers other autoimmune pathologies. His association with Ophthalmological type pan uveitis and/or neurological type of meningitis and/or inner ear type of hearing loss determines the disease or Vogt -Koyanagi-Harada syndrome (VKH). We related the case of a young woman who consulted for recurrent uveitis for a year, and it was only with the onset of vitiligo lesions that VKH disease diagnosis was discussed and confirmed. Read More

    [Lisch nodule in neurofibromatosis type 1].
    Pan Afr Med J 2017 21;27:218. Epub 2017 Jul 21.
    Université Mohammed V Souissi, Service d'Ophtalmologie de l'Hôpital Militaire Mohamed V, Hay Riad, Rabat, Maroc.
    Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease manifests as cutaneous café-au-lait spots and neurofibromas. It is one of the most common autosomal dominant genetic diseases. It is extremely variable in its individual manifestation. Read More

    Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting.
    Pigment Cell Melanoma Res 2017 Oct 4. Epub 2017 Oct 4.
    Paediatric Dermatology Unit, National Reference Center for Rare Skin Disorders, Hôpital Pellegrin-Enfants, Bordeaux University Hospitals, Bordeaux, France.
    Albinism is a rare genetic disease, comprising syndromic and non-syndromic forms. We assessed clinical and genetic characteristics in a prospective evaluation of 64 patients (33 children and 31 adults) seen at a specialized day hospital. Causative genetic mutations were found in TYR (23/64, 35. Read More

    OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism.
    PLoS One 2017 3;12(10):e0185944. Epub 2017 Oct 3.
    Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
    We investigated a German Spitz family where the mating of a black male to a white female had yielded three puppies with an unexpected light brown coat color, lightly pigmented lips and noses, and blue eyes. Combined linkage and homozygosity analysis based on a fully penetrant monogenic autosomal recessive mode of inheritance identified a critical interval of 15 Mb on chromosome 3. We obtained whole genome sequence data from one affected dog, three wolves, and 188 control dogs. Read More

    Psychosocial impact of acne and postinflammatory hyperpigmentation.
    An Bras Dermatol 2017 Jul-Aug;92(4):505-509
    Department of Psychiatry and Behavioral Sciences; University of Miami Miller School of Medicine - Miami (FL), USA.
    Background:: Acne is one of the most common skin diseases. It has significant effect on self-image and negative impact on quality of life. Postinflammatory hyperpigmentation is an acquired hypermelanosis that occurs after a skin injury or cutaneous inflammation. Read More

    Segmental pigmentation disorder: A rare form of cutaneous dyspigmentation.
    Caspian J Intern Med 2017 ;8(3):223-225
    Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran.
    Background: Segmental pigmentation disorder (SegPD) is a rare type of cutaneous dyspigmentation. This hereditary disorder, first described some 20 years ago, is characterized by hypo and hyperpigmented patches on the trunk, extremities and less likely on the face and neck. These lesions are considered as a type of checkerboard pattern. Read More

    Cronkhite-Canada syndrome associated with colon cancer metastatic to liver: A case report.
    Medicine (Baltimore) 2017 Sep;96(38):e7466
    Department of Oncology, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
    Rationale: Cronkhite-Canada Syndrome (CCS) is an idiopathic, nonhereditary syndrome haracterized by gastrointestinal (GI) polyposis and ectodermal changes including alopecia, onychatrophia, and pigmentation. CCS colon polyps were previously considered to be benign neoplasms. However, serrated adenoma was reported to be associated with malignant neoplasms in some cases of gastric and colorectal carcinomas, and esophageal cancers. Read More

    Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report.
    BMC Res Notes 2017 Sep 18;10(1):487. Epub 2017 Sep 18.
    Laboratoire Commun de Biologie et de Génétique Moléculaires, Hôpital Saint-Antoine, 184, rue du Faubourg Saint-Antoine, 75012, Paris, France.
    Background: Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy are rare chronic liver disorders. Dubin-Johnson syndrome may manifest as conjugated hyperbilirubinemia, darkly pigmented liver, presence of abnormal pigment in the parenchyma of hepatocytes and abnormal distribution of the coproporphyrin isomers I and III in the urine. Intrahepatic cholestatic jaundice of pregnancy presents as pruritus, abnormal liver biochemistry and increased serum bile acids. Read More

    A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN.
    Br J Dermatol 2017 Sep 18. Epub 2017 Sep 18.
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
    Dowling-Degos disease, featuring reticulate pigmentation, and familial hidradenitis suppurativa share many clinical features including autosomal dominant inheritance, flexural location and follicular defects. The co-existence of the two disorders was recently found to result from mutations in PSENEN, encoding protein presenilin enhancer gamma-secretase subunit. Here we report 4 additional families of Jewish Ashkenazi origin who presented with clinical features characteristic of both disorders. Read More

    The State of Ethnic Dermatology in Canada.
    J Cutan Med Surg 2017 Sep/Oct;21(5):464-466
    2 Division of Dermatology, Department of Medicine, University of Toronto, Toronto, ON, Canada.
    Approximately 30% of Canadians will be members of a visible minority by 2031. When dermatology became an independent medical discipline in the late 18th and early 19th centuries, most residents of Canada and the United States were of Northern European descent. Morphology and descriptions of dermatoses are based on patients with light skin. Read More

    Pigmentary changes in patients treated with targeted anticancer agents: A systematic review and meta-analysis.
    J Am Acad Dermatol 2017 Nov 14;77(5):902-910.e2. Epub 2017 Sep 14.
    Dermatology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York. Electronic address:
    Background: The discovery of signaling networks that drive oncogenic processes has led to the development of targeted anticancer agents. The burden of pigmentary adverse events from these drugs is unknown.

    Objective: To conduct a systematic review and meta-analysis of published clinical trials and determine the incidence and risk of development of targeted therapy-induced pigmentary changes. Read More

    Postinflammatory hyperpigmentation: A comprehensive overview: Treatment options and prevention.
    J Am Acad Dermatol 2017 Oct;77(4):607-621
    Department of Dermatology, Henry Ford Hospital, Detroit, Michigan. Electronic address:
    Postinflammatory hyperpigmentation (PIH) occurs after various dermatoses, exogenous stimuli, and dermatologic procedures. The clinical course of PIH is chronic and unpredictable, although the probability of resolution of epidermal hyperpigmentation is better than those of dermal hyperpigmentation. PIH can be prevented or alleviated. Read More

    Postinflammatory hyperpigmentation: A comprehensive overview: Epidemiology, pathogenesis, clinical presentation, and noninvasive assessment technique.
    J Am Acad Dermatol 2017 Oct;77(4):591-605
    Department of Dermatology, Henry Ford Hospital, Detroit, Michigan. Electronic address:
    Postinflammatory hyperpigmentation (PIH) commonly occurs after various endogenous and exogenous stimuli, especially in dark-skinned individuals. PIH is one of the most common complications of procedures performed using laser and other light sources. The severity of PIH is determined by the inherent skin color, degree and depth of inflammation, degree of dermoepidermal junction disruption, inflammatory conditions, and the stability of melanocytes, leading to epidermal and dermal melanin pigment deposition. Read More

    Misuse of Topical Corticosteroids for Cosmetic Purpose in Antananarivo, Madagascar.
    Biomed Res Int 2017 21;2017:9637083. Epub 2017 Aug 21.
    Department of Dermatology, University Hospital Joseph Raseta Befelatanana, Antananarivo, Madagascar.
    This cross-sectional study was conducted in Antananarivo, Madagascar, from June to September 2012. We aim to evaluate the misuse of TC on the face for cosmetic purpose and the adverse effects due to its application. A questionnaire-based analysis was done among females who use topical corticosteroids on the face for cosmetic purpose. Read More

    Seasonally-induced alterations of some facial signs in Caucasian women and their changes induced by a daily application of a photo-protective product.
    Int J Cosmet Sci 2017 Dec 30;39(6):664-675. Epub 2017 Oct 30.
    L'Oreal Research and Innovation, 188-200 Rue Paul Hochart 94550, Chevilly-Larue, France.
    Objectives: These were two-fold: (i) to assess the possible changes in some facial signs induced in a 6-month period by the periodical shift from winter to summer in Caucasian women and (ii) to appraise the preventive effects of a strong photo-protective product.

    Methods: The facial signs of two cohorts of French women (N= 40 and 42), of comparable ages were graded between winter to summer. One group was left unprotected whereas the other daily applied a strong photo-protective product for 6 months. Read More

    Approach for the Derivation of Melanocytes from Induced Pluripotent Stem Cells.
    J Invest Dermatol 2017 Sep 5. Epub 2017 Sep 5.
    Institute of Dermatology & Cutaneous Sciences, Sapporo, Japan.
    Induced pluripotent stem (iPS) cells have the ability to differentiate into multiple cell types in the body and have an unlimited growth potential. However, iPS cell-derived melanocytes produced by existing protocols have significant limitations in developing novel strategies for regenerative medicine and cell therapies of pigmentation disorders in humans because they involve culture in media containing fetal bovine serum and nonphysiological agents. In this study, we established an in vitro approach to generate iPS cell-derived human melanocytes that have higher proliferation rates and increased melanin production compared with melanocytes prepared by previously reported approaches. Read More

    Inhibition of NAT10 Suppresses Melanogenesis and Melanoma Growth by Attenuating Microphthalmia-Associated Transcription Factor (MITF) Expression.
    Int J Mol Sci 2017 Sep 7;18(9). Epub 2017 Sep 7.
    Department of Biomedical Chemistry, College of Biomedical & Health Science, Konkuk University, Chungju 27478, Chungbuk, Korea.
    N-acetyltransferase 10 (NAT10) has been considered a target for the treatment of human diseases such as cancer and laminopathies; however, its functional role in the biology of melanocytes is questionable. Using a small molecule or small interfering RNA targeting NAT10, we examined the effect of NAT10 inhibition on melanogenesis and melanoma growth in human and mouse melanoma cells. Genetic silencing or chemical inhibition of NAT10 resulted in diminished melanin synthesis through the suppression of melanogenesis-stimulating genes such as those encoding dopachrome tautomerase (DCT) and tyrosinase in B16F10 melanoma cells. Read More

    Superparamagnetic iron oxide nanoparticles as the sole method for sentinel node biopsy detection in patients with breast cancer.
    Br J Surg 2017 Nov 6;104(12):1675-1685. Epub 2017 Sep 6.
    Department of Surgical Sciences, Uppsala University Hospital, Uppsala Academic Hospital, Uppsala, Sweden.
    Background: Sentinel node biopsy (SNB) using superparamagnetic iron oxide (SPIO) nanoparticles is a novel method in breast cancer. Several studies have verified the non-inferiority of SPIO compared with the standard use of radioisotope (99m) Tc with or without blue dye. The aim of the MONOS study presented here was to evaluate the use of SPIO as a sole tracer and the efficacy of tracer injection in the preoperative setting. Read More

    Quercetin as a tyrosinase inhibitor: Inhibitory activity, conformational change and mechanism.
    Food Res Int 2017 Oct 4;100(Pt 1):226-233. Epub 2017 Jul 4.
    State Key Laboratory of Food Science and Technology, Nanchang University, 235 Nanjing East Road, Nanchang 330047, China; New Zealand Institute of Natural Medicine Research, 8 Ha Crescent, Auckland 2104, New Zealand.
    Quercetin, a flavonoid compound, was found to inhibit both monophenolase and diphenolase activities of tyrosinase, and its inhibition against diphenolase activity was in a reversible and competitive manner with an IC50 value of (3.08±0.74)×10(-5)molL(-1). Read More

    The Standardized Extract of Juniperus communis Alleviates Hyperpigmentation in Vivo HRM-2 Hairless Mice and in Vitro Murine B16 Melanoma Cells.
    Biol Pharm Bull 2017 ;40(9):1381-1388
    College of Pharmacy, Pusan National University.
    In European folk medicine, the fruits of Juniperus communis are used in the treatment of skin-related disorders such as skin infection, itching, and psoriasis. Previously, we reported that the EtOAc fraction of J. communis (EAJC) contained tyrosinase inhibition properties in vitro non-cellular experiment. Read More

    Analysis of DNA binding by human factor xeroderma pigmentosum complementation group A (XPA) provides insight into its interactions with nucleotide excision repair substrates.
    J Biol Chem 2017 Oct 31;292(41):16847-16857. Epub 2017 Aug 31.
    From the Departments of Chemistry and
    Xeroderma pigmentosum (XP) complementation group A (XPA) is an essential scaffolding protein in the multiprotein nucleotide excision repair (NER) machinery. The interaction of XPA with DNA is a core function of this protein; a number of mutations in the DNA-binding domain (DBD) are associated with XP disease. Although structures of the central globular domain of human XPA and data on binding of DNA substrates have been reported, the structural basis for XPA's DNA-binding activity remains unknown. Read More

    Review of applications of microneedling in dermatology.
    Clin Cosmet Investig Dermatol 2017 8;10:289-298. Epub 2017 Aug 8.
    George Washington University School of Medicine and Health Sciences, Washington, DC, USA.
    Microneedling (MN) is a novel therapeutic modality in dermatology. Through physical trauma from needle penetration, MN induces a wound healing cascade with minimal damage to the epidermis. This allows for enhancement in the absorption of mainstay topical therapies across the thick stratum corneum. Read More

    Transcription coupled repair deficiency protects against human mutagenesis and carcinogenesis: Personal Reflections on the 50th anniversary of the discovery of xeroderma pigmentosum.
    DNA Repair (Amst) 2017 Oct 23;58:21-28. Epub 2017 Aug 23.
    Department of Dermatology, University of California San Francisco, 2340 Sutter Street, San Francisco, CA, 94143. Electronic address:
    Xeroderma pigmentosum (XP) patients who lack the main damage recognition protein for global genome repair (GGR), XPC, have greatly increased skin cancer rates and elevated mutation frequencies originating from unrepaired ultraviolet photoproducts in the nontranscribed regions of the genome and in nontranscribed strands of expressed genes. But they show no increased mutations in transcribed strands. In contrast, cancer is absent from Cockayne syndrome (CS) patients that have defective transcription coupled repair (TCR) despite severe photosensitivity, CS patients remarkably show no elevation of UV induced mutagenesis implying that defective TCR may be protective against mutagenesis and carcinogenesis. Read More

    Metabo-miR: miR-211 Regulates Mitochondrial Energy Metabolism in Vitiligo.
    J Invest Dermatol 2017 Sep;137(9):1828-1830
    Division of Pediatric Hematology/Oncology, Department of Pediatrics, Pennsylvania State University, College of Medicine, Hershey, Pennsylvania, USA.
    The study by Sahoo et al. established miR-211 as a critical regulator of cellular metabolism in vitiligo cells. miR-211, which is expressed from the transient receptor potential melastatin 1 intronic region, regulates oxidative phosphorylation and mitochondrial energy metabolism in vitiligo. Read More

    Melanocytes Sense Blue Light and Regulate Pigmentation through Opsin-3.
    J Invest Dermatol 2017 Aug 24. Epub 2017 Aug 24.
    INSERM, U1065, Centre Méditerranéen de Médecine Moléculaire (C3M), team 12, Nice, France; Department of Dermatology, University Hospital of Nice, France. Electronic address:
    The shorter wavelengths of the visible light spectrum have been recently reported to induce a long-lasting hyperpigmentation but only in melano-competent individuals. Here, we provide evidence showing that OPN3 is the key sensor in melanocytes responsible for hyperpigmentation induced by the shorter wavelengths of visible light. The melanogenesis induced through OPN3 is calcium dependent and further activates CAMKII followed by CREB, extracellular signal-regulated kinase, and p38, leading to the phosphorylation of MITF and ultimately to the increase of the melanogenesis enzymes: tyrosinase and dopachrome tautomerase. Read More

    Eyelash Trichomegaly: A Rare Presenting Feature of Systemic Lupus Erythematosus.
    Int J Trichology 2017 Apr-Jun;9(2):79-81
    Department of Dermatology, Venereology and Leprology, SHKM GMC, Nalhar, Haryana, India.
    An increase in length, curling, pigmentation, or thickness of eyelashes is termed eyelash trichomegaly. It may be inherited as an isolated trait or as a feature of a congenital syndrome such as Oliver-McFarlane syndrome or oculocutaneous albinism. Acquired conditions associated with eyelash trichomegaly include HIV infection, connective tissue disorders, and the administration of drugs such as cyclosporine and topical latanoprost. Read More

    Predictors of Sensitivity to Perceptual Learning in Children With Infantile Nystagmus.
    Invest Ophthalmol Vis Sci 2017 Aug;58(10):4162-4172
    Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Cognitive Neuroscience Department, Nijmegen, The Netherlands.
    Purpose: To identify predictors of sensitivity to perceptual learning on a computerized, near-threshold letter discrimination task in children with infantile nystagmus (idiopathic IN: n = 18; oculocutaneous albinism accompanied by IN: n = 18).

    Methods: Children were divided into two age-, acuity-, and diagnosis-matched training groups: a crowded (n = 18) and an uncrowded training group (n = 18). Training consisted of 10 sessions spread out over 5 weeks (grand total of 3500 trials). Read More

    Repigmentation in vitiligo using the Janus kinase inhibitor tofacitinib may require concomitant light exposure.
    J Am Acad Dermatol 2017 Oct 18;77(4):675-682.e1. Epub 2017 Aug 18.
    Department of Dermatology, New Haven, Connecticut. Electronic address:
    Background: Vitiligo is an autoimmune disease in which cutaneous depigmentation occurs. Existing therapies are often inadequate. Prior reports have shown benefit of the Janus kinase (JAK) inhibitors. Read More

    New data on hyperpigmentation disorders.
    J Eur Acad Dermatol Venereol 2017 Sep;31 Suppl 5:18-21
    Department of Dermatology, Santo Amaro University Medical School, Santo Amaro, Brazil.
    Recently visible light (VL) and vascularization triggered by infrared light (IR) play a role in hyperpigmentation disorders of the skin. The aim of this article is to provide an update on the aetiology of hyperpigmentation disorders and means of prevention against UV, visible (VL) and infrared light (IR). The author conducted a literature review of the most recent data about hyperpigmentation disorders and means of prevention and protection. Read More

    The association between XPG polymorphisms and cancer susceptibility: Evidence from observational studies.
    Medicine (Baltimore) 2017 Aug;96(32):e7467
    aDepartment of Pathology, Jining No. 1 People's Hospital, Jining, Shandong bDepartment of Pathology, Changhai Hospital, Second Military Medical University, Shanghai cDepartment of Oncology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong dZhejiang Provincial Key Laboratory of Medical Genetics, Wenzhou Medical University, Wenzhou, Zhejiang eMolecular Epidemiology Laboratory, Department of Laboratory Medicine, Harbin Medical University Cancer Hospital, Harbin, Heilongjiang fDepartment of Cardio-Thoracic Surgery, Jining No. 1 People's Hospital, Jining, Shandong, China.
    Background: Exposure to environmental carcinogens can cause damages to DNA. If not properly repaired, the DNA damages may increase the risk of carcinogenesis. Xeroderma pigmentosum group G (XPG) gene is an essential gene in the nucleotide excision repair (NER) pathway. Read More

    Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males.
    Pediatrics 2017 09 9;140(3). Epub 2017 Aug 9.
    Institute of Genetics and Biophysics "Adriano Buzzati-Traverso," IGB-CNR, Naples, Italy;
    Incontinentia pigmenti (IP; Online Mendelian Inheritance in Man catalog #308300) is an X-linked dominant ectodermal disorder caused by mutations of the inhibitor of κ polypeptide gene enchancer in B cells, kinase γ (IKBKG)/ nuclear factor κB, essential modulator (NEMO) gene. Hemizygous IKBKG/NEMO loss-of-function (LoF) mutations are lethal in males, thus patients are female, and the disease is always transmitted from an IP-affected mother to her daughter. We present 2 families with father-to-daughter transmission of IP and provide for the first time molecular evidence that the combination of somatic and germ-line mosaicism for IKBKG/NEMO loss of function mutations in IP males resulted in the transmission of the disease to a female child. Read More

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