36,911 results match your criteria Hypomelanosis of Ito


Dysregulation of CCN3 (NOV) expression in the epidermis of Systemic Sclerosis patients with pigmentary changes.

Pigment Cell Melanoma Res 2020 Jul 6. Epub 2020 Jul 6.

Univ. Bordeaux, Inserm, BMGIC, UMR1035, 146 rue Léo Saignat, 33 076, Bordeaux, France.

Systemic Sclerosis (SSc) is a severe disease whose pathophysiology remains partly unknown, combining auto-immune, vascular and fibrotic features. Recently, we evidenced a link between vasculopathy and pigmentary changes in SSc. CCN3 (NOV) is a matricellular protein implicated both in angiogenesis and pigmentation regulation, in particular melanocyte adhesion to the basal layer. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pcmr.12912DOI Listing

TGF-β3 suppresses melanogenesis in human melanocytes cocultured with UV-irradiated neighboring cells and human skin.

J Dermatol Sci 2020 Jun 24. Epub 2020 Jun 24.

Department of Dermatology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea. Electronic address:

Background: Ultraviolet radiation (UVR) is the most well-known cause of skin pigmentation accompanied with photoaging. Transforming growth factor (TGF)-β1 was previously shown to have anti-melanogenic property; however, it can induce scarring in skin.

Objective: We investigated the effect of TGF-β3 on melanogenesis in human melanocytes cocultured with UV-irradiated skin constituent cells, and UV-irradiated human skin. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jdermsci.2020.06.007DOI Listing

A case of new-onset vitiligo in a patient on tofacitinib and brief review of paradoxical presentations with other novel targeted therapies.

Dermatol Online J 2020 Mar 15;26(3). Epub 2020 Mar 15.

Department of Dermatology, Division of Internal Medicine, University of Texas MD Anderson Cancer Center, Houston, TX Department of Dermatology, University of Texas Health Science Center at Houston, Houston, TX.

With recent advancements in the understanding of vitiligo pathogenesis, Janus kinase (JAK) inhibitors have emerged as a promising new treatment modality, but their effects remain incompletely elucidated. Tofacitinib, an oral JAK 1/3 inhibitor approved for the treatment of rheumatoid arthritis, has previously been shown to induce significant re-pigmentation in vitiligo. However, as with other novel targeted therapies, cutaneous adverse effects have been observed. Read More

View Article

Download full-text PDF

Source

Screening of an Epigenetic Drug Library Identifies 4-((hydroxyamino)carbonyl)--(2-hydroxyethyl)--Phenyl-Benzeneacetamide that Reduces Melanin Synthesis by Inhibiting Tyrosinase Activity Independently of Epigenetic Mechanisms.

Int J Mol Sci 2020 Jun 28;21(13). Epub 2020 Jun 28.

Department of Molecular Medicine, School of Medicine, Kyungpook National University, Daegu 41944, Korea.

The aim of this study was to identify novel antimelanogenic drugs from an epigenetic screening library containing various modulators targeting DNA methyltransferases, histone deacetylases, and other related enzymes/proteins. Of 141 drugs tested, K8 (4-((hydroxyamino)carbonyl)--(2-hydroxyethyl)--phenyl-benzeneacetamide; HPOB) was found to effectively inhibit the α-melanocyte-stimulating hormone (α-MSH)-induced melanin synthesis in B16-F10 murine melanoma cells without accompanying cytotoxicity. Additional experiments showed that K8 did not significantly reduce the mRNA and protein level of tyrosinase (TYR) or microphthalmia-associated transcription factor (MITF) in cells, but it potently inhibited the catalytic activity TYR in vitro (IC, 1. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms21134589DOI Listing
June 2020
2.862 Impact Factor

New topical tranexamic acid derivative for the improvement of hyperpigmentation and inflammation in the sun-damaged skin.

J Cosmet Dermatol 2020 Jun 25. Epub 2020 Jun 25.

Actera Ingredients Inc., Newtown, PA, USA.

Background: Skin-lightening products are used worldwide to treat persistent pigmentation disorders that impact our quality of life and self-confidence. However, consumers of cosmetic and over-the-counter skin lighteners struggle to find products that perform to their expectations. New, safe, and effective bioactives are needed to fill this gap. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jocd.13545DOI Listing

Miracles of Herbal Phytomedicines in Treatment of Skin Disorders: Natural Healthcare Perspective.

Infect Disord Drug Targets 2020 Jun 22. Epub 2020 Jun 22.

Institute of Pharmaceutical Research, GLA University, Mathura-281406, Uttar Pradesh. India.

Human skin considered as the first line of defense and barrier against the majority of infections caused through the skin that are affecting human populations. Healthy skin, promotes healthy body that can achieve with the usage of modern, allopathic and natural remedies. Major skin ailments affecting human populations are skin cancers, eczema, herpes infection, fungal infection, anti-aging, itching, insect bites, pemphigus vulgaris, trauma, psoriasis, athlete's foot infections, rashes, skin pigmentation, acne, major and minor wound infections that are slowly becoming a burden on health care. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2174/1871526520666200622142710DOI Listing

The diagnostic conundrum of Riehl melanosis and other facial pigmentary disorders: a case report with overlapping clinical, dermoscopic, and histopathological features.

Acta Dermatovenerol Alp Pannonica Adriat 2020 Jun;29(2):81-83

Department of Dermatology and Venereology, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo Hospital, Jakarta, Indonesia.

Riehl melanosis (RM) is a form of pigmented contact dermatitis that often poses a diagnostic challenge due to overlaps in its clinical, dermoscopic, and histopathological features with other pigmentary disorders. This report highlights significant findings and the proper approach for diagnosis. We present the case of a 47-year-old female with progressive facial hyperpigmentation (irregular, blotchy, grayish patches on the forehead, cheeks, and around the mouth) that acknowledged applying a lightening product before her complaint. Read More

View Article

Download full-text PDF

Source

Plasma sublimation for the treatment of xanthelasma palpebrarum.

Acta Dermatovenerol Alp Pannonica Adriat 2020 Jun;29(2):55-57

Department of Dermatovenerology, Faculty of Medicine, University of Latvia, Riga, Latvia.

Introduction: Xanthelasma palpebrarum (XP) is a common xanthomatous lesion of the eyelid and periorbital skin. Several methods of treatment have been reported in the literature, each having its own indications and risks. We present a new treatment method for removing XP using a plasma exeresis device (Plexr®, GMV, Italy). Read More

View Article

Download full-text PDF

Source

BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.

Genet Med 2020 Jun 22. Epub 2020 Jun 22.

Rare Diseases, Genetics and Metabolism, INSERM U1211, University of Bordeaux, Bordeaux, France.

Purpose: Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, excessive bleeding, and often additional symptoms. Variants in ten different genes have been involved in HPS. However, some patients lack variants in these genes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-020-0867-5DOI Listing

A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations.

Ophthalmic Genet 2020 Jun 16:1-5. Epub 2020 Jun 16.

Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami , Miami, FL, USA.

Coats plus syndrome (CP) is a rare condition characterized by bilateral exudative retinal telangiectasias with associated systemic disorders primarily affecting the brain, bone and gastrointestinal tract due to a mutation in the gene. mutations are also known to cause dyskeratosis congenita (DC), which is an inherited bone marrow failure syndrome characterized by skin pigmentation abnormalities, nail dystrophy, and oral leukoplakia. This is the first reported case of a patient diagnosed with both CP and DC caused by compound heterozygous gene mutations. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/13816810.2020.1772315DOI Listing

Mitochondria in skin health, aging, and disease.

Cell Death Dis 2020 Jun 9;11(6):444. Epub 2020 Jun 9.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, 35294, USA.

The skin is a high turnover organ, and its constant renewal depends on the rapid proliferation of its progenitor cells. The energy requirement for these metabolically active cells is met by mitochondrial respiration, an ATP generating process driven by a series of protein complexes collectively known as the electron transport chain (ETC) that is located on the inner membrane of the mitochondria. However, reactive oxygen species (ROS) like superoxide, singlet oxygen, peroxides are inevitably produced during respiration and disrupt macromolecular and cellular structures if not quenched by the antioxidant system. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41419-020-2649-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7283348PMC

Guanine Deaminase in Human Epidermal Keratinocytes Contributes to Skin Pigmentation.

Molecules 2020 Jun 5;25(11). Epub 2020 Jun 5.

Department of Dermatology, Asan Medical Center, University of Ulsan College of Medicine, 88 Olympic-ro 43-gil, Songpa-gu, Seoul 05505, Korea.

Epidermal keratinocytes are considered as the most important neighboring cells that modify melanogenesis. Our previous study used microarray to show that guanine deaminase (GDA) gene expression is highly increased in melasma lesions. Hence, we investigated the role of GDA in skin pigmentation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/molecules25112637DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7321356PMC

Molecular and biochemical mechanisms of human iris color: A comprehensive review.

J Cell Physiol 2020 Jun 2. Epub 2020 Jun 2.

Gorgan Congenital Malformations Research Center, Golestan University of Medical Sciences, Gorgan, Iran.

Eye color is determined as a polymorphism and polygenic trait. Brown is the most common eye color in the world, accounting for about 79%, blue eye color for about 8-10%, hazel for 5%, and green for 2%. Rare-colored eyes include gray and red/violet. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jcp.29824DOI Listing

Regulation of Wnt Signaling through Ubiquitination and Deubiquitination in Cancers.

Int J Mol Sci 2020 May 30;21(11). Epub 2020 May 30.

Department of Biomedical Science, CHA University, Gyeonggi-Do 13488, Korea.

The Wnt signaling pathway plays important roles in embryonic development, homeostatic processes, cell differentiation, cell polarity, cell proliferation, and cell migration via the β-catenin binding of Wnt target genes. Dysregulation of Wnt signaling is associated with various diseases such as cancer, aging, Alzheimer's disease, metabolic disease, and pigmentation disorders. Numerous studies entailing the Wnt signaling pathway have been conducted for various cancers. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms21113904DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7311976PMC

​ A series of benzylidene linked to hydrazinecarbothioamide as tyrosinase inhibitors Synthesis, biological evaluation and structure-activity relationship.

Chem Biodivers 2020 Jun 1. Epub 2020 Jun 1.

Shiraz University of Medical Sciences School of Pharmacy, Medicinal chemistry, Marvdasht Hwy, Rokn Abad Town, 1583;71345, Shiraz, IRAN, ISLAMIC REPUBLIC OF.

Tyrosinase is a type 3 copper enzyme responsible for skin pigmentation disorders, skin cancer, and enzymatic browning of vegetables and fruits. In the present article, 12 small molecules of benzylidene-hydrazinecarbothioamide were designed, synthesized and evaluated for their anti-tyrosinase activities followed by molecular docking and pharmacophore-based screening. Among synthesized thiosemicarbazone derivatives, 3d is the strongest inhibitor of mushroom tyrosinase with IC 50 of 0. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/cbdv.202000285DOI Listing
June 2020
1.515 Impact Factor

[Medicaments and oral healthcare. Hyperpigmentation of oral soft tissues due to afamelanotide].

Ned Tijdschr Tandheelkd 2020 Apr;127(4):237-243

The medicament afamelanotide is an analogue of endogenous ?-melanocyte-stimulating hormone. It promotes cutaneous pigmentation, providing protection from sunlight. In dermatology, afamelanotide seems to establish therapeutic results for polymorphic light eruption, solar urticaria, erythropoietic protoporphyria, Hailey-Hailey disease, vitiligo and acne vulgaris. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5177/ntvt.2020.04.19115DOI Listing

[Maxillofacial manifestations in children and adolescents with neurofibromatosis 1].

Stomatologiia (Mosk) 2020 ;99(2):85-90

Central Research Institute of Dentistry and Maxillofacial Surgery, Moscow, Russia.

The aim of the study was to summarize literature data on oral and maxillofacial manifestations of neurofibromatosis I (NFI) and to analyze clinical case in with dentist had the leading role in proper diagnosis of the disease. Literature review showed main oral alterations in NFI to be: neurofibroma formation seen in 8-14% of children and adolescents, dysplastic «orthodontic» phenotype with shortened mandible, maxilla and sphenoid bones; radiologic signs including alveolar nerve canal and mental foramen widening in almost one third of patients; lesions of cranial nerves (mainly trigeminal, facial and glossopharyngeal), with non-specific paralysis clinic. These symptoms, however, develop gradually throughout the life and may be evident only in late adolescents. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.17116/stomat20209902185DOI Listing

Green Pigmentation of Teeth Caused by Neonatal Cholestatic Jaundice and Sepsis: A Case Report.

Int J Clin Pediatr Dent 2019 Nov-Dec;12(6):566-568

Department of Pedodontics, College of Dental Sciences, Davangere, Karnataka, India.

Aim: The aim of this article is to report a case of green discoloration of primary teeth associated with neonatal cholestatic jaundice and sepsis in a 2-year-old girl.

Background: Systemic changes can lead to dental alterations of the teeth. One of the disorders is elevated serum bilirubin levels that can cause pigmentation of teeth. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5005/jp-journals-10005-1696DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229398PMC

A case of acanthosis nigricans in a HIV-infected patient.

BMC Infect Dis 2020 May 20;20(1):360. Epub 2020 May 20.

Department of Public Health and Infectious Diseases, "Sapienza" University of Rome, Rome, Italy.

Background: To date, very little information is available concerning the relationship between acanthosis nigricans (AN) and infection with human immunodeficiency virus type 1 (HIV-1).

Case Presentation: Herein, we report the case of a middle-aged man admitted for fever and progressively worsening dyspnea in the context of an opportunistic pneumonia and firstly diagnosed with acquired immunodeficiency syndrome (AIDS). At the time of diagnosis, physical examination revealed the presence of a palpable, hyperpigmented skin lesion on the left areola with surface desquamation and velvety texture consistent with AN. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12879-020-05089-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7238735PMC

6-Shogaol Protects Human Melanocytes against Oxidative Stress through Activation of the Nrf2-Antioxidant Response Element Signaling Pathway.

Int J Mol Sci 2020 May 16;21(10). Epub 2020 May 16.

Department of Pigmentation Research and Therapeutics, Graduate School of Medicine, Osaka City University, Osaka 545-0041, Japan.

Skin is a major target of oxidative stress. Increasing evidence suggests that oxidative stress is the cause of melanocyte disappearance in vitiligo, which is an acquired pigmentary skin disorder characterized by patches of skin that have lost pigmentation. New herbal extracts with antioxidant activity are therefore being studied. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms21103537DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7279012PMC

Asian Hair: A Review of Structures, Properties, and Distinctive Disorders.

Clin Cosmet Investig Dermatol 2020 24;13:309-318. Epub 2020 Apr 24.

Division of Dermatology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

Asian hair is known for its straightness, dark pigmentation, and large diameter. The cuticle layer in Asians is thicker with more compact cuticle cells than that in Caucasians. Asian hair generally exhibits the strongest mechanical properties, and its cross-sectional area is determined greatly by genetic variations, particularly from the gene. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2147/CCID.S247390DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187942PMC

Incomplete penetrance of MITF gene c.943C>T mutation in an extended family with Waardenburg syndrome type II.

Int J Pediatr Otorhinolaryngol 2020 Aug 21;135:110014. Epub 2020 Apr 21.

Cancer Research Center, Semnan University of Medical Sciences, Semnan, Iran; Department of Medical Genetics, Semnan University of Medical Sciences, Semnan, Iran. Electronic address:

Waardenburg syndrome (WS) is a group of genetic disorders that often determined by abnormal pigmentation and hearing impairment. Four subgroups of disease are recognized according to physical characteristics and involved genes. Mutation in the genes, MITF, SOX10, SNAI2, PAX3, KIT and KITLG are related to Waardenburg syndrome type II. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijporl.2020.110014DOI Listing

Synthesis of calix[4]azacrown substituted sulphonamides with antioxidant, acetylcholinesterase, butyrylcholinesterase, tyrosinase and carbonic anhydrase inhibitory action.

J Enzyme Inhib Med Chem 2020 Dec;35(1):1215-1223

NEUROFARBA Department, Sezione di Scienze Farmaceutiche, Università degli Studi di Firenze, Florence, Italy.

A series of novel calix[4]azacrown substituted sulphonamide Schiff bases was synthesised by the reaction of calix[4]azacrown aldehydes with different substituted primary and secondary sulphonamides. The obtained novel compounds were investigated as inhibitors of six human (h) isoforms of carbonic anhydrases (CA, EC 4.2. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/14756366.2020.1765166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7269057PMC
December 2020

Quantitative Study of Human Scleral Melanocytes and Their Topographical Distribution.

Curr Eye Res 2020 May 25:1-9. Epub 2020 May 25.

Department of Pathology, New York Eye and Ear Infirmary of Mount Sinai , New York, NY, USA.

Purpose: While fibroblasts constitute the main cell component of the sclera, the purpose of the present study was to investigate the cell densities of melanocytes at different regions of the sclera, and to compare them with associated scleral fibroblast densities in human donor eye sections.

Methods: . Paraffin-embedded sections of sclera from 21 human eyes were stained with hematoxylin-eosin (H&E) and immunohistochemical staining (S-100/AEC). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/02713683.2020.1767789DOI Listing

Plant 22-nt siRNAs mediate translational repression and stress adaptation.

Nature 2020 05 29;581(7806):89-93. Epub 2020 Apr 29.

Department of Biology, Institute of Plant and Food Science, Southern University of Science and Technology, Shenzhen, China.

Small interfering RNAs (siRNAs) are essential for proper development and immunity in eukaryotes. Plants produce siRNAs with lengths of 21, 22 or 24 nucleotides. The 21- and 24-nucleotide species mediate cleavage of messenger RNAs and DNA methylation, respectively, but the biological functions of the 22-nucleotide siRNAs remain unknown. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41586-020-2231-yDOI Listing
May 2020
42.351 Impact Factor

Photoprotection beyond ultraviolet radiation: A review of tinted sunscreens.

J Am Acad Dermatol 2020 Apr 23. Epub 2020 Apr 23.

Department of Dermatology, Henry Ford Hospital, Detroit, Michigan. Electronic address:

Ultraviolet radiation and visible light both have biologic effects on the skin. Visible light can induce erythema in light-skinned individuals and pigmentation in dark-skinned individuals. Broad-spectrum sunscreens protect against ultraviolet radiation but do not adequately protect against visible light. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaad.2020.04.079DOI Listing

Membrane transport proteins in melanosomes: Regulation of ions for pigmentation.

Biochim Biophys Acta Biomembr 2020 Apr 22:183318. Epub 2020 Apr 22.

Department of Collaborative Research for Bio-Molecular Dynamics, Nara Medical University, 840 Shijo-cho, Kashihara, Nara 634-8521, Japan. Electronic address:

Melanosomes are unique organelles in melanocytes that produce melanin, the pigment for skin, hair, and eye color. Tyrosinase is the essential and rate-limiting enzyme for melanin production, that strictly requires neutral pH for activity. pH maintenance is a result of the combinational function of multiple ion transport proteins. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbamem.2020.183318DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7175901PMC

Expression and distribution of bone morphogenetic protein 4 and its antagonist Noggin in the skin of Kazakh sheep (Ovis aries) with a white and brown coat color.

Acta Histochem 2020 May 21;122(4):151539. Epub 2020 Apr 21.

College of Animal Science and Veterinary Medicine, Shanxi Agricultural University, Taigu 030801, Shanxi Province, China. Electronic address:

The natural coat color is an important trait of vertebrate animals. For example, the coat color can help avoid harm to human beings caused by chemical dyeing, and it has economic significance for domestic animals. The bone morphogenetic protein 4 (BMP4) and its antagonist Noggin can regulate pigmentation and the generation of coat color in mice; thus, they may also regulate the coat color of Kazakh sheep. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.acthis.2020.151539DOI Listing
May 2020
1.714 Impact Factor

Reappearance of limbal pigmentation post-simple limbal epithelial transplant.

Indian J Ophthalmol 2020 May;68(5):927-929

Department of Cornea, Refractive Surgery and Ocular Surface Disorders, Dr. Shroff's Charity Eye Hospital, New Delhi, India.

We report the repigmentation at the limbus in patients who underwent simple limbal epithelial transplant (SLET) for uniocular chemical injury. The first case is of an 8-year-old child who presented with grade 4 chemical injury, with limbal stem cell deficiency (LSCD) corresponding to 6 o' clock till 11 o' clock. He was managed by amniotic membrane graft in the acute stage and SLET after 6 months of the initial injury. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/ijo.IJO_155_19DOI Listing
May 2020
0.927 Impact Factor

Inflammatory segmental vitiligo during oral isotretinoin use: a casual association?

An Bras Dermatol 2020 May - Jun;95(3):399-400. Epub 2020 Mar 20.

Service of Dermatology, Hospital Santa Casa de Misericórdia de Curitiba, Curitiba, PR, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.abd.2019.07.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253908PMC

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.

Clin Genet 2020 Jul 4;98(1):19-31. Epub 2020 May 4.

Centre de Génétique et Centre de référence « Anomalies du Développement et Syndromes Malformatifs », Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France.

Heterozygous activating variants in platelet-derived growth factor, beta (PDGFRB) are associated with phenotypes including Kosaki overgrowth syndrome (KOGS), Penttinen syndrome and infantile myofibromatosis (IM). Here, we present three new cases of KOGS, including a patient with a novel de novo variant c.1477A > T p. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13752DOI Listing
July 2020
3.931 Impact Factor

Cutaneous Interaction with Visible Light: What Do We Know.

J Am Acad Dermatol 2020 Apr 11. Epub 2020 Apr 11.

Department of Dermatology, University of Colorado Anschutz Medical Campus, Aurora, CO. Electronic address:

Visible light has been used therapeutically in dermatology for years for a variety of cosmetic and medical indications, including skin rejuvenation and the treatment of inflammatory and neoplastic conditions, among others. Until recently, visible light was thought to be relatively inert compared to its spectral neighbors, ultraviolet and infrared radiation. However, recent literature has described the ability of visible light to cause erythema in light skin and pigmentary changes in individuals with darker skin types. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaad.2020.03.115DOI Listing

The Eye Color Experiment: From Berlin to Auschwitz and Back.

Isr Med Assoc J 2020 Apr;22(4):219-223

Department of Ophthalmology, Diakonessenhuis, Utrecht/Zeist, The Netherlands.

Background: In an effort to alter eye color during World War II, devout Nazi researcher Karin Magnussen had adrenaline eye drops administered to inmates at the concentration camp Auschwitz-Birkenau. A Sinti family, with a high prevalence of heterochromia iridis, was forced to participate in this study. Members of this family, as well as other victims, were later killed and had their eyes enucleated and sent to Magnussen for examination. Read More

View Article

Download full-text PDF

Source

Familial evaluation reveals a distinct genetic cause in a large Spanish family with neurofibromatosis 1 and hypertrophic cardiomyopathy.

Gene 2020 Jul 10;746:144658. Epub 2020 Apr 10.

Cardiovascular Genetics, Health in Code, A Coruña, Spain.

Neurofibromatosis 1 (NF1) is an autosomal dominant disorder characterized by café-au-lait spots, intertriginous freckling, and multiple neurofibromas. Classically, it has been described that hypertrophic cardiomyopathy (HCM) may be a cardiovascular manifestation of neurofibromatosis 1, although the relationship between these two entities has not been fully established. We report a large Spanish family carrying a pathogenic truncating variant in NF1 (p. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2020.144658DOI Listing

Photoaging Reversibility in Asian Patients With Melasma Treated Using Picosecond Lasers With Diffractive Lens Array: A 1-Year Prospective Observational Cohort Study.

Dermatol Surg 2020 Apr 6. Epub 2020 Apr 6.

Department of Cosmeceutics, Graduate Institute of Cosmeceutics, China Medical University, Taichung, Taiwan (R.O.C.).

Background: Picosecond lasers appear to be effective and safe in treating pigmentation and photoaging disorders through laser-induced optical breakdown.

Objective: To analyze the feasibility of photorejuvenation using picosecond lasers with diffractive lens array (DLA) in patients with melasma.

Methods: Ten Asian (N = 10) women with melasma and Fitzpatrick skin Type IV were enrolled and treated using 755-nm picosecond alexandrite lasers with DLA. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/DSS.0000000000002405DOI Listing
April 2020
2.109 Impact Factor

Fruit Shell Extract-Induced Melanogenesis via cAMP Signaling Pathway Activation.

Int J Mol Sci 2020 Apr 6;21(7). Epub 2020 Apr 6.

Alliance for Research on the Mediterranean and North Africa (ARENA), University of Tsukuba, Tennodai 1-1-1, Tsukuba City, Ibaraki 305-8572, Japan.

We have previously reported that argan oil and argan press-cake from the kernels of have an anti-melanogenesis effect. Here, the effect of argan fruit shell ethanol extract (AFSEE) on melanogenesis in B16F10 cells was determined, and the mechanism underlying its effect was elucidated. The proliferation of AFSEE-treated B16F10 cells was evaluated using the 3-(4,5-dimethylthiazolyl-2)-2,5-diphenyltetrazolium bromide (MTT) assay, while the melanin content was quantified using a spectrophotometric method. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms21072539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7177760PMC

Critical role of metabotropic glutamate receptor 4 in bone marrow-derived dendritic cells in the Th17 cell differentiation and the melanogenesis of B16 cells.

Braz J Med Biol Res 2020 6;53(4):e9282. Epub 2020 Apr 6.

Department of Dermatology, The First Affiliated Hospital of Dalian Medical University, Dalian, Liaoning, China.

Vitiligo is an acquired pigmentary disorder resulting from selective destruction of melanocytes. Emerging studies have suggested that T helper cell 17 (Th17) is potentially implicated in vitiligo development and progression. It was recently discovered that metabotropic glutamate receptor 4 (mGluR4) can modulate Th17-mediated adaptive immunity. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1590/1414-431X20209282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7162588PMC

The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil.

Mutat Res 2020 04 29;852:503164. Epub 2020 Feb 29.

Department of Microbiology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil. Electronic address:

In central Brazil, in the municipality of Faina (state of Goiás), the small and isolated village of Araras comprises a genetic cluster of xeroderma pigmentosum (XP) patients. The high level of consanguinity and the geographical isolation gave rise to a high frequency of XP patients. Recently, two founder events were identified affecting that community, with two independent mutations at the POLH gene, c. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mrgentox.2020.503164DOI Listing

Emerging role of dermal compartment in skin pigmentation: comprehensive review.

J Eur Acad Dermatol Venereol 2020 Apr 3. Epub 2020 Apr 3.

Department of Dermatology, PGIMER, Chandigarh, India.

The variations in human skin colour mainly occur due to differences in the distribution of melanin pigment throughout the body, synthesized by epidermal melanocytes which are further taken up by keratinocytes present in epidermis. Recently, it has been discovered that besides these cells, dermis derived fibroblast factors also play a prominent role in regulating skin pigmentation. There exists a signal crosstalk between epidermal melanocytes, keratinocytes and dermal fibroblasts and any impairment in these signalling pathways may give rise to pigmentary disorders. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jdv.16404DOI Listing
April 2020
2.826 Impact Factor

A unique case of prurigo pigmentosa related to ketogenic diet.

Dermatol Online J 2020 Feb 15;26(2). Epub 2020 Feb 15.

Division of Dermatology, Department of Medicine, University of California Los Angeles, Los Angeles, CA.

Prurigo pigmentosa is a rare inflammatory dermatosis that primarily affects Japanese patients. Various triggers have been identified, including the ketogenic diet. Given the current popularity of the ketogenic diet, the incidence of prurigo pigmentosa may be on the rise. Read More

View Article

Download full-text PDF

Source
February 2020

Thiotepa hyperpigmentation preceding epidermal necrosis: malignant intertrigo misdiagnosed as Stevens-Johnson syndrome-toxic epidermal necrolysis overlap.

Dermatol Online J 2020 Feb 15;26(2). Epub 2020 Feb 15.

Cedars Dermatology, Cedars Sinai Medical Group, CA.

Thiotepa is a common alkylating agent known to precipitate cutaneous reactions consistent with toxic erythema of chemotherapy, including erythema and hyperpigmentation. Herein, we describe an atypical case of malignant intertrigo involving preferential erythema and desquamation not only of skin folds but also of occluded areas after thiotepa-based conditioning. The diagnosis was complicated by concurrent stomatitis and oral petechiae in the setting of autologous stem cell transplant 11 days prior for diffuse large B-cell lymphoma. Read More

View Article

Download full-text PDF

Source
February 2020

Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review.

BMC Med Genet 2020 03 30;21(1):67. Epub 2020 Mar 30.

Department of Dermatology, Jinling Hospital, Nanjing University, School of Medicine, Nanjing, 210002, China.

Background: Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis. There are eight complementation groups of XP (XP-A to G and a variant form). XP-E is one of the least common forms, and XP-E patients are generally not diagnosed until they are adults due to a later onset of skin alterations. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12881-020-00997-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7106656PMC

JNK suppresses melanogenesis by interfering with CREB-regulated transcription coactivator 3-dependent MITF expression.

Theranostics 2020 4;10(9):4017-4029. Epub 2020 Mar 4.

Department of Biomedical Sciences, University of Ulsan College of Medicine, Seoul 05505, Korea.

Melanogenesis is a critical self-defense mechanism against ultraviolet radiation (UVR)-induced skin damage and carcinogenesis; however, dysregulation of melanin production and distribution causes skin-disfiguring pigmentary disorders. Melanogenesis is initiated by UVR-induced cAMP generation and ensuing activation of transcription factor CREB, which induces expression of the master melanogenic regulator MITF. Recent studies have demonstrated that recruitment of CRTCs to the CREB transcription complex is also required for UVR-stimulated melanogenesis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7150/thno.41502DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7086364PMC

Optical Nanosensors for Physiological Chloride Detection for Monitoring Cystic Fibrosis Treatment.

Anal Methods 2020 Mar 26;12(11):1441-1448. Epub 2020 Feb 26.

Department of Bioengineering, Northeastern University, Boston, Massachusetts 02115, United States.

Personalized approaches for continuous monitoring of chloride levels are potentially valuable for evaluating the efficacy of new treatments of genetic disorders such as cystic fibrosis. In this report, we validated optode-based nanosensors for real-time chloride monitoring in the interstitial fluid of living animals. These nanosensors take advantage of a ratiometric sensing scheme which demonstrates reversible and selective chloride detection in the physiological range. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1039/C9AY02717CDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7100910PMC

First record of albinism in the lanternshark family, Etmopteridae.

Authors:
Brittany Finucci

J Fish Biol 2020 Jun 13;96(6):1512-1515. Epub 2020 Apr 13.

National Institute of Water and Atmospheric Research, Wellington, New Zealand.

A single albino specimen of the lanternshark, Lucifer's dogfish (Etmopterus lucifer), is reported here. The specimen was found among museum collections, having been captured near Cape Palliser, off the North Island of New Zealand in 1984. Morphometrics are reported, and with no retainment of pigmentation, the specimen is considered a complete albino. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jfb.14329DOI Listing

Differences in the Incidence of Pathologic Lesions on the Oral Mucosa in Patients Undergoing Hemodialysis vs Renal Organ Transplant Recipients Subjected to Long-term Pharmacologic Immunosuppressive Therapy.

Transplant Proc 2020 Mar 25. Epub 2020 Mar 25.

Department of General and Transplantation Surgery, Medical University of Warsaw, Warsaw, Poland.

Disorders of homeostasis and an increased incidence of infection in patients undergoing hemodialysis causes frequent appearance of pathologic changes in the oral mucosa. The organ transplant and subsequent pharmacologic immunosuppression may result in systemic disorders manifesting by pathologic oral lesions.

Methods: The study was conducted on 18 patients undergoing hemodialysis and 18 patients after renal transplant. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.transproceed.2020.02.105DOI Listing

Calf Reduction by Partial Resection of Gastrocnemius Using a Suction-Assisted Cartilage Shaver.

Authors:
Lih-Ren Jong

Plast Reconstr Surg 2020 04;145(4):734e-743e

Taipei, Taiwan From the Lih-Ren Plastic Surgery Clinic.

Background: Long-term aesthetic reduction of the legs in Asians is gaining increasing popularity among cosmetic patients. Current treatment options include botulinum toxin injection, radiofrequency, neurectomy, and total, subtotal, or partial muscle resection of the gastrocnemius. Partial resection using Kelly forceps was introduced in 2000. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/PRS.0000000000006708DOI Listing

Liquid Chromatography Tandem Mass Spectrometry Analysis of Proteins Associated with Age-Related Disorders in Human Pituitary Tissue.

Methods Mol Biol 2020 ;2138:263-276

Laboratory of Neuroproteomics, Department of Biochemistry and Tissue Biology, Institute of Biology, University of Campinas (UNICAMP), Campinas, SP, Brazil.

The pituitary gland is involved in multiple physiological functions, including growth, development, reproduction, stress adaptation, osmotic balance, body composition, skin pigmentation, and aging. Advancing age is characterized by dysfunctions in multiple physiological signaling mechanisms, concomitant with perturbed patterns of pituitary hormone release as well as disrupted rhythmic secretion of virtually all pituitary hormones. This chapter presents a liquid chromatography tandem mass spectrometry (LC-MS/MS) protocol for analysis of the protein content in post-mortem pituitary glands. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-1-0716-0471-7_18DOI Listing
January 2020

Assessing Ganglion Cell Layer Topography in Human Albinism Using Optical Coherence Tomography.

Invest Ophthalmol Vis Sci 2020 03;61(3):36

,.

Purpose: To test whether ganglion cell layer (GCL) and inner plexiform layer (IPL) topography is altered in albinism.

Methods: Optical coherence tomography scans were analyzed in 30 participants with albinism and 25 control participants. Horizontal and vertical line scans were acquired at the fovea, then strip registered and averaged. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.61.3.36DOI Listing

Measurement of Diurnal Variation in Rod Outer Segment Length In Vivo in Mice With the OCT Optoretinogram.

Invest Ophthalmol Vis Sci 2020 03;61(3)

.

Purpose: To investigate diurnal variation in the length of mouse rod outer segments in vivo.

Methods: The lengths of rod inner and outer segments (RIS, ROS) of dark-adapted albino mice maintained on a 12-hour dark:12-hour light cycle with light onset 7 AM were measured at prescribed times (6:30 AM, 11 AM, 3:30 PM) during the diurnal cycle with optical coherence tomography (OCT), taking advantage of increased visibility, after a brief bleaching exposure, of the bands corresponding to RIS/ROS boundaries and ROS tips (ROST).

Results: Deconvolution of OCT depth profiles resolved two backscatter bands located 7. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.61.3.9DOI Listing