35,504 results match your criteria Hypomelanosis of Ito


Hypomelanosis of Ito: streaks and whorls.

BMJ Case Rep 2019 Apr 23;12(4). Epub 2019 Apr 23.

Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.

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http://dx.doi.org/10.1136/bcr-2018-227693DOI Listing

Structure⁻Activity Relationships of the Tetrapeptide Ac-His-Arg-(I)DPhe-Tic-NH at the Mouse Melanocortin Receptors: Modification at the (I)DPhe Position Leads to mMC3R Versus mMC4R Selective Ligands.

Molecules 2019 Apr 13;24(8). Epub 2019 Apr 13.

Department of Medicinal Chemistry & Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN 55455, USA.

The five melanocortin receptors (MC1R-MC5R) are involved in numerous biological pathways, including steroidogenesis, pigmentation, and food intake. In particular, MC3R and MC4R knockout mice suggest that the MC3R and MC4R regulate energy homeostasis in a non-redundant manner. While MC4R-selective agonists have been utilized as appetite modulating agents, the lack of MC3R-selective agonists has impeded progress in modulating this receptor in vivo. Read More

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http://dx.doi.org/10.3390/molecules24081463DOI Listing

Melanonychia striata: clarifying behind the Black Curtain. A review on clinical evaluation and management of the 21st century.

Int J Dermatol 2019 Apr 21. Epub 2019 Apr 21.

Departments of Pediatrics, Laboratory Medicine, and Pathology, The University of Alberta, Edmonton, Alberta, Canada.

Melanonychia striata is characterized by a tan, brown, or black longitudinal streak within the nail plate that runs from the proximal nail fold to the distal part of the nail plate. Melanonychia striata is due to increased activity of melanocytes or melanocytic hyperplasia in the nail matrix with subsequently increased melanin deposition in the nail plate. The most common cause of melanonychia striata associated with melanocytic activation is ethnic melanonychia which occurs in dark-skinned individuals. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/ijd.14464
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http://dx.doi.org/10.1111/ijd.14464DOI Listing
April 2019
4 Reads

[Genetics and dermatology].

Authors:
F Morice-Picard

Ann Dermatol Venereol 2019 Apr 18;146(4):326-339. Epub 2019 Apr 18.

Service de dermatologie pédiatrique et dermatologie, Centre de référence des maladies rares de la peau, Hôpital pédiatrique, Groupe hospitalier Pellegrin, Centre hospitalier universitaire de Bordeaux, place Amélie-Raba-Léon, 33076 Bordeaux cedex, France. Electronic address:

Many types of genodermatosis exist, with numerous modes of transmission. The development of molecular genetic methods, in particular the most recent sequencing techniques, can be used to identify an increasing number of genes involved in these forms of genodermatosis while providing confirmation or more details regarding clinical diagnosis. Thanks to this approach, it is possible to determine risk of recurrence and to formulate an antenatal strategy. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01519638193008
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http://dx.doi.org/10.1016/j.annder.2019.02.009DOI Listing
April 2019
1 Read

Dietary Protein Deficit and Deregulated Autophagy: A New Clinico-diagnostic Perspective in Pathogenesis of Early Aging, Skin, and Hair Disorders.

Indian Dermatol Online J 2019 Mar-Apr;10(2):115-124

Department of Dermatology, Aesthetic Surgery and Intervention Dermatology, AURA Skin Institute, Chandigarh, India.

Background: Diet has an important role to play in the well-being of human body.

Aims: The study intends to establish the "hypothesis of conscious, selective, and self-destruction i.e. Read More

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http://dx.doi.org/10.4103/idoj.IDOJ_123_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6434747PMC
April 2019
5 Reads

Striking contiguous depigmentation across the lower limbs in piebaldism and its implications for understanding melanocytic migration and development.

Pediatr Dermatol 2019 Apr 14. Epub 2019 Apr 14.

University of California, San Francisco, California.

Piebaldism is a rare autosomal dominant disorder of pigmentation that is characterized by variable patches of depigmentation on the face, chest, abdomen, and extremities. We describe two cases of piebaldism, in whom the remarkable asymmetric distribution of the depigmented patches in a connected, contiguous pattern across the legs provides embryologic insights. This finding is not explained by the traditional theory that melanocytic migration only originates in the neural crest and progresses unilaterally down each leg. Read More

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http://dx.doi.org/10.1111/pde.13831DOI Listing

[Treatment of retinopathy of incontinentia pigmenti by anti-vascular endothelial growth factor].

Authors:
X Wang J H Liang

Zhonghua Yan Ke Za Zhi 2019 Apr;55(4):294-301

Beijing Key Laboratory of Vision Loss and Restoration, Ministry of Education, Department of Ophthalmology, People's Hospital, Peking University, Beijing 100044, China.

To investigate the treatment of retinopathy of incontinentia pigmenti by anti-vascular endothelial growth factor. Retrospective study of 5 patients(8 eyes) diagnosed retinopathy of incontinentia pigmenti from 2005 to 2017, including 0 males and 5 females (8 eyes involved) with an average age of 2.4 months(range, 1-5 months). Read More

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http://dx.doi.org/10.3760/cma.j.issn.0412-4081.2019.04.012DOI Listing
April 2019
7 Reads

Isolated rod dysfunction associated with a novel genotype of .

Am J Ophthalmol Case Rep 2019 Jun 19;14:83-86. Epub 2019 Mar 19.

UCL Institute of Ophthalmology, University College London, London, UK.

Purpose: To describe the clinical and electrophysiological features of an unusual retinopathy in a patient with a novel genotype of , mutations in which are implicated in autosomal recessive retinitis pigmentosa (rod-cone dystrophy).

Observations: A 61-year old asymptomatic woman was referred to the inherited retinal disorders clinic because of peripheral retinal pigmentary changes. She had normal visual acuity and color vision. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S24519936183032
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http://dx.doi.org/10.1016/j.ajoc.2019.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438912PMC
June 2019
1 Read

A woman with an itchy hyperpigmentation on her back.

BMJ 2019 Apr 11;365:l1332. Epub 2019 Apr 11.

Health Center Vondelplein, Amersfoort, Netherlands

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http://www.bmj.com/lookup/doi/10.1136/bmj.l1332
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http://dx.doi.org/10.1136/bmj.l1332DOI Listing
April 2019
1 Read

Dermatological diseases in the geriatric age group: Retrospective analysis of 7092 patients.

Authors:
Mahizer Yaldiz

Geriatr Gerontol Int 2019 Apr 5. Epub 2019 Apr 5.

Department of Dermatology, Sakarya Training and Research Hospital, Sakarya, Turkey.

Aim: The aim of the present study was to retrospectively investigate the dermatological diseases seen in geriatric patients, and their distribution according to age, sex and season, making a significant contribution to the few previous prevalence studies.

Methods: Data from 7092 geriatric patients examined at our dermatology clinic from 1 January to 31 December 2017 were retrospectively analyzed. The data were analyzed according to age, sex and seasons. Read More

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http://dx.doi.org/10.1111/ggi.13665DOI Listing
April 2019
3 Reads

Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes.

Medicina (Kaunas) 2019 Mar 25;55(3). Epub 2019 Mar 25.

Department of Health Sciences, Amedeo Avogadro University of Eastern Piedmont, 28100 Novara, Italy.

The term congenital hypopigmentary disorders refers to a wide group of heterogeneous hereditary diseases, clinically characterized by inborn pigmentary defects of the iris, hair, and/or skin. They include Gray Hair Syndromes (GHSs), a rare group of autosomal recessive genodermatosis hallmarked by inborn silvery gray hair. GHSs encompass Griscelli, Chediak⁻Higashi, Elejalde, and Cross syndromes, which are all characterized by a broad spectrum of severe multisystem disorders, including neurological, ocular, skeletal, and immune system impairment. Read More

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http://dx.doi.org/10.3390/medicina55030078DOI Listing

The Dark Side of the Heart: Cardiovascular Manifestation of Ochronosis.

Ann Thorac Surg 2019 Mar 26. Epub 2019 Mar 26.

Department of Cardiac and Transplant Surgery, University Hospital Dubrava, Zagreb, Croatia.

Alkaptonuria is rare genetic disorder of tyrosine metabolism presenting with signs of tissue pigmentation, dark urine and ochronotic arthropathies. Commonly undiscovered by late adulthood it can manifest as cardiac ochronosis with cardiovascular disorders such as valvulopathies but rarely coronary artery disease. We present two patients with aortic stenosis and coronary artery disease in whom alkaptonuria was diagnosed during open-heart surgery. Read More

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http://dx.doi.org/10.1016/j.athoracsur.2019.02.042DOI Listing
March 2019
1 Read

Melanocyte Chitosan/Gelatin Composite Fabrication with Human Outer Root Sheath-Derived Cells to Produce Pigment.

Sci Rep 2019 Mar 26;9(1):5198. Epub 2019 Mar 26.

Department of Plastic and Reconstructive Surgery, the Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, People's Republic of China.

The hair follicle serves as a melanocyte reservoir for both hair and skin pigmentation. Melanocyte stem cells (MelSCs) and melanocyte progenitors reside in the bulge/sub-bulge region of the lower permanent portion of the hair follicle and play a vital role for repigmentation in vitiligo. It would be beneficial to isolate MelSCs in order to further study their function in pigmentary disorders; however, due to the lack of specific molecular surface markers, this has not yet been successfully accomplished in human hair follicles (HuHF). Read More

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http://dx.doi.org/10.1038/s41598-019-41611-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6435804PMC
March 2019
1 Read

Terra firma-forme dermatosis: Differential diagnosis and response to salicylic acid therapy.

Pediatr Dermatol 2019 Mar 24. Epub 2019 Mar 24.

First Department of Dermatology, Aristotle University Medical School, Thessaloniki, Greece.

Terra firma-forme dermatosis (TFFD), first described by Duncan in 1987, is a relatively common but probably underdiagnosed condition, characterized by a reticular hyperpigmented dirtlike eruption resistant to washing with common soap but typically removed with rubbing with 70% isopropyl alcohol. We present a case of TFFD in an 8-year-old boy with rapid response to 5% salicylic acid in petrolatum ointment. Read More

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http://dx.doi.org/10.1111/pde.13807DOI Listing

Functional interplay between TFIIH and KAT2A regulates higher-order chromatin structure and class II gene expression.

Nat Commun 2019 03 20;10(1):1288. Epub 2019 Mar 20.

Institut de Génétique et de Biologie Moléculaire et Cellulaire Illkirch Cedex, C.U. Strasbourg, France.

The TFIIH subunit XPB is involved in combined Xeroderma Pigmentosum and Cockayne syndrome (XP-B/CS). Our analyses reveal that XPB interacts functionally with KAT2A, a histone acetyltransferase (HAT) that belongs to the hSAGA and hATAC complexes. XPB interacts with KAT2A-containing complexes on chromatin and an XP-B/CS mutation specifically elicits KAT2A-mediated large-scale chromatin decondensation. Read More

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http://www.nature.com/articles/s41467-019-09270-2
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http://dx.doi.org/10.1038/s41467-019-09270-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6426930PMC
March 2019
5 Reads

Diffuse Melanosis and Melanuria.

N Engl J Med 2019 03;380(12):1166

Azienda Unità Sanitaria Locale di Reggio Emilia-IRCCS, Reggio Emilia, Italy

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http://dx.doi.org/10.1056/NEJMicm1810151DOI Listing
March 2019
1 Read

Managing postinflammatory hyperpigmentation in pediatric patients with skin of color.

Authors:
Candrice R Heath

Cutis 2018 Feb;102(2):71-73

Department of Dermatology, Lewis Katz School of Medicine, Temple University Hospital, Philadelphia, Pennsylvania, USA.

Postinflammatory hyperpigmentation (PIH) is common in patients with skin of color. Notably, the US population of children with skin of color is growing rapidly. Postinflammatory hyperpigmentation can be quite distressing in pediatric patients, particularly among adolescents and their parents/guardians. Read More

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February 2018

Novel amide derivatives as potent tyrosinase inhibitors; in-vitro, in-vivo antimelanogenic activity and computational studies.

Med Chem 2019 03 18. Epub 2019 Mar 18.

Plasma Bioscience Research Center, Kwangwoon University, 20 Kwangwoon-gil, Nowon-gu, Seoul 139-701. Korea.

Background: Tyrosinase is involved in melanin biosynthesis and the abnormal accumulation of melanin pigments leading to hyperpigmentation disorders. Controlling the melanogenesis could be an important strategy for treating abnormal pigmentation.

Methods: In present study a series of amide derivatives (3a-e and 5a-e) were synthesized aiming to inhibit tyrosinase activity and melanin production. Read More

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http://dx.doi.org/10.2174/1573406415666190319101329DOI Listing
March 2019
4 Reads

How hormones may modulate human skin pigmentation in melasma: an in vitro perspective.

Authors:
Muriel Cario

Exp Dermatol 2019 Mar 18. Epub 2019 Mar 18.

Univ. Bordeaux, Inserm, BMGIC, UMR1035, 33 076, Bordeaux, France.

Melasma is a common acquired hyperpigmentary disorder occurring primarily in photo-exposed areas and mainly affecting women of childbearing age. To decipher the role of sex hormones in melasma, this viewpoint reviews the effects of sex hormones on cutaneous cells cultured in monolayers, in coculture, in 3D models and explants in the presence or absence of UV. The data show that sex steroid hormones, especially estrogen, can modulate in vitro pigmentation by stimulating melanocytes and keratinocyte pro-pigmentary factors, but not via fibroblast or mast cell activation. Read More

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http://dx.doi.org/10.1111/exd.13915DOI Listing
March 2019
1 Read

Vitamin C Prevents Ultraviolet-induced Pigmentation in Healthy Volunteers: Bayesian Meta-analysis Results from 31 Randomized Controlled versus Vehicle Clinical Studies.

J Clin Aesthet Dermatol 2019 Feb 1;12(2):E53-E59. Epub 2019 Feb 1.

Drs. de Dormael and Bastien contributed equally to this article.

Repeated nonextreme sun exposures induce skin pigmentation by increasing melanin production and by oxidizing preexisting melanin and melanin precursors. This leads to skin disorders and skin color heterogeneity such as hyperpigmented spots. We assessed 31 randomized, controlled clinical trials to determine the potential of vitamin C to limit ultraviolet (UV) daylight-induced pigmentation, considering dose response and different skin type populations (Caucasian and Chinese). Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6415704PMC
February 2019
1 Read

Acquired Macular Pigmentation of Unknown Etiology.

J Clin Aesthet Dermatol 2019 Jan 1;12(1):38-46. Epub 2019 Jan 1.

Dr. Udompanich and Dr. Vachiramon are with the Division of Dermatology, Faculty of Medicine Ramathibodi Hospital, Mahidol University in Bangkok, Thailand.

is a new umbrella term that encompasses a group of diseases that, while having similar clinical and histological features, their true entities are controversial, and a global consensus regarding these conditions is still lacking. The conditions comprised by the term are ashy dermatosis, erythema dyschromicum perstans, lichen planus pigmentosus, and idiopathic eruptive macular pigmentation. In this review, we compare the clinical and histological features of these conditions that comprise aquired macular pimgentation of unknown etiology, as well as review their responses to treatment. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6405250PMC
January 2019
6 Reads

Amine derivatives of furocoumarin induce melanogenesis by activating Akt/GSK-3β/β-catenin signal pathway.

Drug Des Devel Ther 2019 12;13:623-632. Epub 2019 Feb 12.

Key Laboratory of Plant Resources and Chemistry in Arid Regions, State Key Laboratory Basis of Xinjiang Indigenous Medicinal Plants Resource Utilization, Xinjiang Technical Institute of Physics and Chemistry, Chinese Academy of Sciences, Urumqi 830011, China,

Background: Melanogenesis, or the biosynthesis of melanin, plays a critical role in the pigmentation of skin, hair, and eyes. Reduced melanogenesis may lead to depigmentation conditions such as vitiligo. Psoralen, a furocoumarin derivative, is closely associated with melanogenesis, and its derivative 8-methoxypsoralen is used in psoralen and ultraviolet A therapy for pigmentation disorders. Read More

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http://dx.doi.org/10.2147/DDDT.S180960DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387609PMC
February 2019
1 Read

Tyrosinase inhibition and anti-melanin generation effect of cinnamamide analogues.

Bioorg Chem 2019 Mar 4;87:43-55. Epub 2019 Mar 4.

Laboratory of Medicinal Chemistry, College of Pharmacy, Pusan National University, Busan 46241, South Korea. Electronic address:

Abnormal melanogenesis results in excessive production of melanin, leading to pigmentation disorders. As a key and rate-limiting enzyme for melanogenesis, tyrosinase has been considered an important target for developing therapeutic agents of pigment disorders. Despite having an (E)-β-phenyl-α,β-unsaturated carbonyl scaffold, which plays an important role in the potent inhibition of tyrosinase activity, cinnamic acids have not attracted attention as potential tyrosinase inhibitors, due to their low tyrosinase inhibitory activity and relatively high hydrophilicity. Read More

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http://dx.doi.org/10.1016/j.bioorg.2019.03.001DOI Listing
March 2019
13 Reads

Cannabinoid Signaling in the Skin: Therapeutic Potential of the "C(ut)annabinoid" System.

Molecules 2019 Mar 6;24(5). Epub 2019 Mar 6.

Department of Physiology, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.

The endocannabinoid system (ECS) has lately been proven to be an important, multifaceted homeostatic regulator, which influences a wide-variety of physiological processes all over the body. Its members, the endocannabinoids (eCBs; e.g. Read More

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http://dx.doi.org/10.3390/molecules24050918DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6429381PMC
March 2019
2 Reads

Crohn's-like acute severe colitis associated with Hermansky-Pudlak syndrome: A case report.

World J Gastroenterol 2019 Feb;25(8):1031-1036

Institut des Maladies de l'Appareil Digestif, Department of Gastroenterology and Digestive Oncology, Nantes University Hospital, Nantes Cedex 44093, France.

Background: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency and systemic complications associated with ceroid deposition in the reticuloendothelial system. HPS types 1 and 4 are associated with Crohn's disease (CD)-like gastrointestinal disorders, such as granulomatous enterocolitis or perianal disease. Cases of colitis can be particularly severe and, before the use of anti-tumor necrosis factor alpha (TNFα) therapy had become common, were reported as showing poor responsiveness to medical treatment. Read More

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http://dx.doi.org/10.3748/wjg.v25.i8.1031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6397731PMC
February 2019
4 Reads

Determinants of vitamin D status of healthy office workers in Sydney, Australia.

J Steroid Biochem Mol Biol 2019 Mar 1;189:127-134. Epub 2019 Mar 1.

Bosch Institute for Medical Research, University of Sydney, NSW, 2006, Australia; Physiology, School of Medical Sciences, University of Sydney, NSW, 2006, Australia. Electronic address:

Low vitamin D status, measured as 25-hydroxyvitamin D (25OHD), has been linked to increased risk of osteoporosis and other disorders. Due to the indoor nature of office work, there may be an increased risk of 25OHD deficiency in this group. The aim of the current study was to evaluate seasonal variations of 25OHD in a population of healthy office workers, and to assess the effect of sun exposure behaviour, skin pigmentation, physical activity (PA) and dietary intake on serum 25OHD concentrations. Read More

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http://dx.doi.org/10.1016/j.jsbmb.2019.02.017DOI Listing
March 2019
3 Reads

Low-fluenced erbium:yttrium-aluminium-garnet laser treatment in combination with broadband light pretreatment for various pigmentation disorders in Asian patients.

J Cosmet Dermatol 2019 Mar 1. Epub 2019 Mar 1.

Department of Dermatology and Cutaneous Biology Research Center, International St. Mary's Hospital, Catholic Kwandong University College of Medicine, Incheon, Korea.

Background: Low-fluenced 2940-nm erbium (Er):yttrium-aluminium-garnet (YAG) resurfacing elicits ablative photothermal tissue reactions confined to the uppermost parts of the epidermis.

Objective: To demonstrate the efficacy and safety of low-fluenced ablative Er:YAG laser treatment in combination with broadband light (BBL) pretreatment for various pigmentation disorders.

Methods: In total, 35 Korean patients with various pigmentation disorders were pretreated with BBL, and then, low-fluenced Er:YAG laser resurfacing was performed with a beam size of 4 mm and a fluence of 1. Read More

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http://dx.doi.org/10.1111/jocd.12897DOI Listing

Case 3: Hepatosplenomegaly with Hyperpigmentation in a 6-year-old Girl.

Pediatr Rev 2019 Mar 1;40(3):145-147. Epub 2019 Mar 1.

Department of Pediatrics, Women and Child Block, Kasturba Medical College, Manipal Academy of Higher Education, Madhav Nagar, Manipal, Karnataka, India.

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http://pedsinreview.aappublications.org/lookup/doi/10.1542/p
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http://dx.doi.org/10.1542/pir.2017-0040DOI Listing
March 2019
9 Reads

Nuclear Entry of CRTC1 as Druggable Target of Acquired Pigmentary Disorder.

Theranostics 2019 21;9(3):646-660. Epub 2019 Jan 21.

College of Pharmacy, Chungbuk National University, Cheongju 28160, Korea.

SOX10 (SRY-related HMG-box 10) and MITF-M (microphthalmia-associated transcription factor M) restrict the expression of melanogenic genes, such as TYR (tyrosinase), in melanocytes. DACE (diacetylcaffeic acid cyclohexyl ester) inhibits melanin production in α-MSH (α-melanocyte stimulating hormone)-activated B16-F0 melanoma cells. In this study, we evaluated the antimelanogenic activity of DACE and elucidated the molecular basis of its action. Read More

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http://dx.doi.org/10.7150/thno.30276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376463PMC
January 2019

Nevus depigmentosus: review of a mark of distinction.

Int J Dermatol 2019 Feb 22. Epub 2019 Feb 22.

Dermatology, Pediatric Medicine, and Pathology, Rutgers New Jersey Medical School, Newark, NJ, USA.

Nevus depigmentosus (ND), also known as nevus achromicus or achromic nevus, is an uncommon congenital hypomelanosis of the skin that is often characterized as being nonprogressive and having serrated borders. It needs to be distinguished from other hypopigmented skin conditions such as nevus anemicus, hypomelanosis of Ito, Fitzpatrick patches (ash leaf spots) of tuberous sclerosis, vitiligo, indeterminate leprosy, and pigment demarcation lines. Treatment may be desired for aesthetic and possible psychosocial considerations. Read More

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http://dx.doi.org/10.1111/ijd.14393DOI Listing
February 2019
4 Reads

Keratinocytic Malfunction as a Trigger for the Development of Solar Lentigines.

Dermatopathology (Basel) 2019 Jan-Mar;6(1):1-11. Epub 2019 Jan 3.

Department of Dermatology, University Hospital Zurich, Zurich, Switzerland.

Introduction: Solar lentigines (SL) affect chronically UV-radiated skin. Treatment is often refractory. Deeper knowledge on its pathogenesis might improve therapeutic effects. Read More

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http://dx.doi.org/10.1159/000495404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381907PMC
January 2019

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Orphanet J Rare Dis 2019 02 21;14(1):52. Epub 2019 Feb 21.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851, Bethesda, MD, 20892-1851, USA.

Background: Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with oculocutaneous albinism and easy bruisability.

Results: The patients were evaluated at a single center; their ages ranged from 3 to 8 years. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1023-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385472PMC
February 2019
3 Reads

Synthesis and structure-activity relationship of tyrosinase inhibiting novel bi-heterocyclic acetamides: Mechanistic insights through enzyme inhibition, kinetics and computational studies.

Bioorg Chem 2019 May 26;86:459-472. Epub 2019 Jan 26.

College of Natural Sciences, Department of Biological Sciences, Kongju National University, Gongju 32588, South Korea. Electronic address:

The present research was designed for the selective synthesis of novel bi-heterocyclic acetamides, 9a-n, and their tyrosinase inhibition to overwhelm the problem of melanogenesis. The structures of newly synthesized compounds were confirmed by spectral techniques such as H NMR, C NMR, and EI-MS along with elemental analysis. The inhibitory effects of these bi-heterocyclic acetamides (9a-n) were evaluated against tyrosinase and all these molecules were recognized as potent inhibitors relative to the standard used. Read More

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http://dx.doi.org/10.1016/j.bioorg.2019.01.036DOI Listing
May 2019
2.152 Impact Factor

Revascularization After Intravitreal Bevacizumab and Laser Therapy of Bilateral Retinal Vascular Occlusions in Incontinentia Pigmenti (Bloch-Sulzberger Syndrome).

Ophthalmic Surg Lasers Imaging Retina 2019 02;50(2):e33-e37

No consensus exists for the treatment of retinopathy in incontinentia pigmenti (IP). Vascular ischemia leads to tractional retinal detachments if untreated. Ultra-widefield fluorescein angiography (FA) is used to follow the vascular status of the retina. Read More

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http://dx.doi.org/10.3928/23258160-20190129-16DOI Listing
February 2019

Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature.

Pediatr Dermatol 2019 Mar 14;36(2):242-246. Epub 2019 Feb 14.

Department of Dermatology, CHU Nantes, Nantes, France.

Early development of extensive acanthosis nigricans (AN) is a key feature in some patients who have hypochondroplasia (HCH) in association with FGFR3 mutations. We here report regarding five new patients with HCH who exhibited AN, and we compare their characteristics to the eight patients previously described in the literature. In these patients, the AN lesions began in childhood, and they were extensive. Read More

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http://dx.doi.org/10.1111/pde.13748DOI Listing
March 2019
1 Read

The role of IFIH1 gene rs1990760 and rs2111485 single-nucleotide polymorphisms in generalized vitiligo predisposition

Turk J Med Sci 2019 Feb 11;49(1):206-211. Epub 2019 Feb 11.

Background/aim: Interferon-induced helicase (IFIH1) is a gene locus that has been recently defined as a candidate for susceptibility to generalized vitiligo (GV). The objectives of this study were to assess the association of IFIH1 gene, rs2111485, and rs1990760 single-nucleotide polymorphisms (SNP) with susceptibility to GV and the autoimmune diseases accompanying GV.

Materials And Methods: We prospectively studied GV patients and frequency-matched healthy controls by age and sex. Read More

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http://online.journals.tubitak.gov.tr/openAcceptedDocument.h
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http://dx.doi.org/10.3906/sag-1808-63DOI Listing
February 2019
4 Reads

Atypical Pattern of Choroidal Hypopigmentation with Cutaneous Vitiligo.

Korean J Ophthalmol 2019 02;33(1):99-100

Department of Ophthalmology and Visual Science, Seoul St. Mary's Hospital, The Catholic University of Korea College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3341/kjo.2018.0054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372386PMC
February 2019

Successful Treatment of Freckles by Alex Trivantage Laser Wavelight 755 nm in Vietnamese Patients.

Open Access Maced J Med Sci 2019 Jan 29;7(2):287-290. Epub 2019 Jan 29.

University of Rome G. Marconi, Rome, Italy.

Objectives: This study aims to evaluate the effectiveness of Alex Trivantage laser wavelength 755 nm (ATL) in the treatment of freckles at Hanoi Hospital of Dermatology and Venereology, Vietnam.

Patients And Methods: A group of 30 patients with freckles were treated by ATL (Alex Trivantage-Candela Co America) with spots size 3 mm, wavelength 755 mm, and energy 5-6 j/cm. All the patients were treated 2 times with 4-weeks interval. Read More

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http://dx.doi.org/10.3889/oamjms.2019.096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6364722PMC
January 2019

Follicular vitiligo: dermatoscopic features of a new subtype of vitiligo.

An Bras Dermatol 2019 Jan-Feb;94(1):120-121

Department of Dermatology, Clínica Alemana, Universidad del Desarrollo, Santiago, Chile.

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http://dx.doi.org/10.1590/abd1806-4841.20198086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360965PMC

Perspectives of New Advances in the Pathogenesis of Vitiligo: From Oxidative Stress to Autoimmunity.

Med Sci Monit 2019 Feb 6;25:1017-1023. Epub 2019 Feb 6.

Department of Dermatology, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi, China (mainland).

Vitiligo is an autoimmune cutaneous disease in which melanocytes are destroyed by CD8⁺ T cells resulting in disfiguring white spots. From the very beginning of the disease, oxidative stress plays a significant role in promoting the onset of vitiligo, as noted by many studies. Multiple factors lead to the overproduction of reactive oxygen species (ROS), and collaboratively cause ROS accumulation in vulnerable melanocytes. Read More

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https://www.medscimonit.com/abstract/index/idArt/914898
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http://dx.doi.org/10.12659/MSM.914898DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373225PMC
February 2019
11 Reads

Ethanol induces skin hyperpigmentation in mice with aldehyde dehydrogenase 2 deficiency.

Chem Biol Interact 2019 Apr 2;302:61-66. Epub 2019 Feb 2.

Department of Dermatology, University of Colorado Anschutz Medical Campus, Aurora, CO, 80045, USA.

Alcohol induces various cutaneous changes, such as palmar erythema and jaundice. However, alcohol-induced skin hyperpigmentation due to melanin deposition has not been reported. Aldehyde dehydrogenase 2 (ALDH2), one of 19 human ALDH isozymes, metabolizes endogenous and exogenous aldehydes to their respective carboxylic acids. Read More

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http://dx.doi.org/10.1016/j.cbi.2019.01.035DOI Listing
April 2019
4 Reads

Manifestations and Treatment of Adult-onset Symptomatic Optic Pathway Glioma in Neurofibromatosis Type 1.

Anticancer Res 2019 Feb;39(2):827-831

Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

This report describes the diagnosis and treatment of a 27-year-old patient with neurofibromatosis 1 (NF1) and late progression of a pre-existing optic pathway glioma (OPG) that caused significant reduction in vision. OPG is one of the diagnostic criteria for establishing the diagnosis of NF1. Most common findings of NF1 are café-au-lait spots, axillary and inguinal freckling of the skin, iris hamartoma (Lisch nodules), and tumors of the central nervous system and peripheral nerves. Read More

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http://dx.doi.org/10.21873/anticanres.13181DOI Listing
February 2019
5 Reads

Evolution of the Picosecond Laser: A Review of Literature.

Dermatol Surg 2019 02;45(2):183-194

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Philadelphia, Pennsylvania.

Background: Picosecond pulse duration lasers (PS) have altered the field of dermatology. PS were initially used in tattoo removal, to optimize efficacy and reduce side effects with nanosecond domain lasers. More recently, they have been demonstrated to be effective in the treatment of pigmentary disorders, acne scarring, and photoaging. Read More

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http://dx.doi.org/10.1097/DSS.0000000000001697DOI Listing
February 2019
3 Reads

Peutz-Jeghers Syndrome.

N Engl J Med 2019 Jan;380(5):472

R.G. Kar Medical College and Hospital, Kolkata, India

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http://dx.doi.org/10.1056/NEJMicm1806623DOI Listing
January 2019
3 Reads

[Clinicopathological features of non-neoplastic colorectal polyps].

Authors:
L Jiang Y F Jiao

Zhonghua Bing Li Xue Za Zhi 2019 Feb;48(2):98-101

Department of Pathology, the Second Affiliated Hospital, Harbin Medical University, Harbin 150086, China.

To characterize clinicopathological characteristics of the non-neoplastic colorectal polyps for accurate diagnosis. 1 190 cases were collected from the Second Affiliated Hospital of Harbin Medical University from January 2012 to December 2016 and their clinicopathological characteristics were reviewed. There were 746 males and 444 females patients with male/female ratio of 1. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0529-5807.2019.02.004DOI Listing
February 2019
1 Read

Early-onset autoimmune vitiligo associated with an enhancer variant haplotype that upregulates class II HLA expression.

Nat Commun 2019 01 23;10(1):391. Epub 2019 Jan 23.

Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, 80045, CO, USA.

Vitiligo is an autoimmune disease in which melanocyte destruction causes skin depigmentation, with 49 loci known from previous GWAS. Aiming to define vitiligo subtypes, we discovered that age-of-onset is bimodal; one-third of cases have early onset (mean 10.3 years) and two-thirds later onset (mean 34. Read More

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http://dx.doi.org/10.1038/s41467-019-08337-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344500PMC
January 2019
3 Reads
10.742 Impact Factor

Prevalence of hypovitaminosis D in India & way forward.

Indian J Med Res 2018 Nov;148(5):548-556

Centre for Promotion of Nutrition Research and Training with Special Focus on North East, Tribal & Inaccessible Population, Division of Nutrition, Indian Council of Medical Research (Campus II), Tuberculosis Association of India Building, New Delhi; ICMR-Desert Medicine Research Centre, Jodhpur, India.

Deficiency of vitamin D or hypovitaminosis D is widespread irrespective of age, gender, race and geography and has emerged as an important area of research. Vitamin D deficiency may lead to osteoporosis (osteomalacia in adults and rickets in children) along with calcium deficiency. Its deficiency is linked with low bone mass, weakness of muscles and increased risk of fracture. Read More

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http://www.ijmr.org.in/text.asp?2018/148/5/548/249984
Publisher Site
http://dx.doi.org/10.4103/ijmr.IJMR_1807_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6366270PMC
November 2018
12 Reads

An herbal H2 blocker in melasma treatment.

Curr Drug Discov Technol 2019 Jan 21. Epub 2019 Jan 21.

Health center, Mashhad University of Medical Sciences, Mashhad. Iran.

Background: Melasma is a skin pigmentation disorder that remains resistant to available therapies. The exact cause of melasma is unknown. Histamine is an inflammatory factor. Read More

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http://dx.doi.org/10.2174/1570163816666190121145653DOI Listing
January 2019
8 Reads