38,199 results match your criteria Hypomelanosis of Ito


UDP-GlcNAc-1-phosphotransferase is a clinically important regulator of human and mouse hair pigmentation.

J Invest Dermatol 2021 Jun 8. Epub 2021 Jun 8.

Centre for Dermatology Research, University of Manchester, UK; The NIHR Biomedical Research Centre, Manchester, UK;; Dr Phillip Frost Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, FL, USA;; Monasterium Laboratory, Münster, Germany. Electronic address:

UDP-GlcNAc-1-phosphotransferase, a product of two separate genes (GNPTAB, GNPTG), is essential for sorting and transport of lysosomal enzymes to lysosomes. GNPTAB gene defects cause extracellular missorting of lysosomal enzymes resulting in lysosomal storage diseases, namely mucolipidosis (ML) type II, which is associated with hair discoloration. Yet, the physiological functions of GNPTAB in the control of hair follicle (HF) pigmentation remain unknown. Read More

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Evaluation of Antioxidant, Anti-Inflammatory and Antityrosinase Potential of Extracts from Different Aerial Parts of Rhanterium suaveolens from Tunisia.

Chem Biodivers 2021 Jun 11. Epub 2021 Jun 11.

Dipartimento di Scienze Chimiche, Biologiche, Farmaceutiche ed Ambientali, Università di Viale Annunziata, 98168, Messina, Italy.

The genus Rhanterium (Asteraceae) is a widely distributed medicinal plant throughout western North Africa and some Rhanterium species are used in folk medicine. The aim of research was to investigate methanolic extracts from different parts (flowers, leaves, and stems) of Tunisian Rhanterium suaveolens as potential sources of bioactive products useful for healthy purposes. In particular, were analyzed the phenolic composition of these extracts and their antioxidant, anti-inflammatory, and anti-tyrosinase properties. Read More

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Photoprotection of the Skin from Visible Light‒Induced Pigmentation: Current Testing Methods and Proposed Harmonization.

J Invest Dermatol 2021 Jun 7. Epub 2021 Jun 7.

Department of Dermatology, Centre Hospitalaire Universitaire de Nice, University Côte d'Azur, Nice, France; C3M, INSERM U1065, University Côte d'Azur, Nice, France.

Visible light (VL) can induce pigmentary alterations, especially in dark-skinned individuals, and exacerbate photodermatoses and pigmentary disorders. Currently, there is no standardized method for assessing sunscreen protection against VL. On the basis of a critical review of published in vitro and in vivo methods, a VL photoprotection assessment method based on pigmentation is proposed. Read More

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308nm excimer lamp monotherapy for lip vitiligo-a short case series.

Authors:
Ajay J Deshpande

J Cosmet Laser Ther 2020 Nov 10;22(6-8):253-255. Epub 2021 Jun 10.

Dermatology, Maharashtra Medical Foundation, Joshi Hospital, Pune, India.

Vitiligo is a common depigmenting condition that carries a high psychosocial morbidity, especially when it occurs over exposed areas like lips. Many of the current topical and systemic therapies are less effective in lip vitiligo, and surgical modality remains the mainstay of treatment of lip vitiligo. The 308-nm excimer laser in combination with topical calcineurin inhibitors and calcipotriene is effective in the treatment of lip vitiligo. Read More

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November 2020

Vitiligo and chronic autoimmune thyroiditis.

J Med Life 2021 Mar-Apr;14(2):127-130

Department of Endocrinology, Clinical County Hospital, Cluj-Napoca, Romania.

Vitiligo, the discoloration of the skin, has different autoimmune mechanisms reflected by many biomarkers as shown by skin histology, staining for CD4 and CD8 T lymphocytes, chemokine ligand 9 or circulating cytokines such as interleukin (IL)-1 beta, interferon (IFN)-gamma, transforming growth factor (TGF)-beta, antibodies, markers of oxidative stress, chemokines, and others. In this narrative review, we aim to overview vitiligo in relationship with chronic autoimmune thyroiditis. Regarding vitiligo, more than 50 different genetic loci have been associated with this disease, and the heritability is high. Read More

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Clinical and capillaroscopic findings in patients with liver disease and proximal apparent leukonychia (Terry nails and its variants).

Medicine (Baltimore) 2021 Jun;100(22):e26207

Department of Internal Medicine and Hepatology.

Abstract: Terry nails and Lindsay nails are similar forms of proximal apparent leukonychia (PAL). A change in nail bed vascularity is thought to be responsible for PAL. The study was aimed at investigating the frequency of PAL in patients attending a liver disease clinic, the factors associated with its presence, its value for detecting cirrhosis, its prognostic value for mortality, and associated capillaroscopic findings. Read More

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Dünner und dünner, dunkler und dunkler.

MMW Fortschr Med 2021 06;163(11):28-29

Facharzt für Innere Medizin, München, Deutschland.

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Dermoscopic Findings and the Clinicopathologic Correlation of Pigmented Purpuric Dermatosis: A Retrospective Review of 60 Cases.

Ann Dermatol 2021 Jun 4;33(3):214-221. Epub 2021 May 4.

Department of Dermatology, Korea University Ansan Hospital, Ansan, Korea.

Background: Pigmented purpuric dermatosis (PPD) is known as a chronic recurrent eruption which usually presents with petechiae and pigmented macules on the lower extremities. Dermoscopy is a noninvasive diagnostic tool in identifying pigmented and vascular lesions, which can also be beneficial in the evaluation of PPD.

Objective: We aimed to analyze the common dermoscopic characteristics of PPD, and correlate those findings with the histopathologic features. Read More

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Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4.

Sci Rep 2021 Jun 2;11(1):11572. Epub 2021 Jun 2.

Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands.

To describe the phenotype of Dutch patients with oculocutaneous albinism type 4 (OCA4), we collected data on pigmentation (skin, hair, and eyes), visual acuity (VA), nystagmus, foveal hypoplasia, chiasmal misrouting, and molecular analyses of nine Dutch OCA4 patients from the Bartiméus Diagnostic Center for complex visual disorders. All patients had severely reduced pigmentation of skin, hair, and eyes with iris transillumination over 360 degrees. Three unrelated OCA4 patients had normal VA, no nystagmus, no foveal hypoplasia, and no misrouting of the visual pathways. Read More

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Periorbital Discolouration Diagnosis and Treatment: Evidence-Based Review.

J Cosmet Laser Ther 2020 Nov 3;22(6-8):217-225. Epub 2021 Jun 3.

Cranley Clinic, London, London, UK.

Infraorbital dark circles are a significant esthetic concern with few publications however offering evidence-based recommendations for their classification and consequent management. A literature review has been undertaken to classify dark circles based on etiology: shadowing, vascular, idiopathic hyperpigmentation, post-inflammatory hyperpigmentation, constitutional and offer an analysis of current treatment modalities and their effectiveness in managing specific types of infraorbital circles. This review aims to provide a detailed account of dark circle etiology, assessment and management. Read More

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November 2020

Adult skin acute stress responses to short-term environmental and internal aggression from exposome factors.

J Eur Acad Dermatol Venereol 2021 Jun 2. Epub 2021 Jun 2.

Department of Psychosomatic Medicine and Psychotherapy, Justus-Liebig University Gießen, Germany and Charité Center 12 (CC12) for Internal Medicine and Dermatology, Berlin, Germany.

Exposome factors that lead to stressed skin can be defined as any disturbance to homeostasis from environmental (meteorological factors, solar radiation, pollution or tobacco smoke) and/or internal exposure (unhealthy diet, hormonal variations, lack of sleep, psychosocial stress). The clinical and biological impact of chronic exposome effects on skin functions has been extensively reviewed, whereas there is a paucity of information on the impact of short-term acute exposure. Acute stress, which would typically last minutes to hours (and generally no more than a week), provokes a transient but robust neuroendocrine-immune and tissue remodeling response in the skin and can alter the skin barrier. Read More

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Conditional Loss of the Exocyst Component Exoc5 in Retinal Pigment Epithelium (RPE) Results in RPE Dysfunction, Photoreceptor Cell Degeneration, and Decreased Visual Function.

Int J Mol Sci 2021 May 11;22(10). Epub 2021 May 11.

Department of Medicine, Medical University of South Carolina, Charleston, SC 29425, USA.

To characterize the mechanisms by which the highly conserved exocyst trafficking complex regulates eye physiology in zebrafish and mice, we focused on Exoc5 (also known as ), a central exocyst component. We analyzed both zebrafish mutants and retinal pigmented epithelium (RPE)-specific knockout mice. Exoc5 is present in both the non-pigmented epithelium of the ciliary body and in the RPE. Read More

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Cutaneous Manifestations of Diabetes.

Med Clin North Am 2021 Jul;105(4):681-697

Department of Dermatology, Mayo Clinic, Rochester, MN, USA. Electronic address:

Diabetes mellitus is a significant worldwide health concern and cutaneous manifestations are common. This review describes characteristic skin findings of diabetes, general skin findings related to diabetes, and findings related to diabetes treatment with a focus on clinical presentation, diagnosis, pathophysiology, epidemiology, and treatment. As the prevalence of diabetes continues to rise, cutaneous manifestations of diabetes mellitus likely will be encountered more frequently by physicians in all disciplines including dermatologists and primary care physicians. Read More

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Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report.

BMC Pediatr 2021 05 31;21(1):253. Epub 2021 May 31.

Hematology Center; Beijing Key Laboratory of Pediatric Hematology Oncology; National Key Discipline of Pediatrics (Capital Medical University); Key Laboratory of Major Diseases in Children, Ministry of Education; Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100045, Beijing, China.

Background: Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in RAB27A gene. It is primarily characterized by a combination of partial albinism, hemophagocytic lymphohistiocytosis (HLH) or other immunodeficiency. However, neurological involvement at onset in GS2 and treatment has rarely been described. Read More

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Alterations of the pigmentation system in the aging process.

Pigment Cell Melanoma Res 2021 May 28. Epub 2021 May 28.

Cutaneous Physiopathology and Integrated Center of Metabolomics Research, San Gallicano Dermatological Institute, IRCCS, Rome, Italy.

Human skin aging is a natural phenomenon that results from continuous exposure to intrinsic (time, genetic factors, hormones) as well as extrinsic factors (UV exposure, pollution, tobacco). In areas that are frequently exposed to the sun, photoaging blends with the process of intrinsic aging, resulting in an increased senescent cells number and consequently accelerating the aging process. The severity of photodamage depends on constitutional factors, including skin phototype (skin color, tanning capacity), intensity, and duration of sunlight/UV exposure. Read More

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Management of albinism: French guidelines for diagnosis and care.

J Eur Acad Dermatol Venereol 2021 Jul 27;35(7):1449-1459. Epub 2021 May 27.

Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), Hôpital Universitaire Necker- Enfants Malades, Assistance Publique - Hôpitaux de Paris-Centre (AP-HP5), Paris, France.

Albinism is a worldwide genetic disorder caused by mutations in at least 20 genes, identified to date, that affect melanin production or transport in the skin, hair and eyes. Patients present with variable degrees of diffuse muco-cutaneous and adnexal hypopigmentation, as well as ocular features including nystagmus, misrouting of optic nerves and foveal hypoplasia. Less often, albinism is associated with blood, immunological, pulmonary, digestive and/or neurological anomalies. Read More

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Comparing the Efficacy of Patelet-rich Plasma (PRP) versus Tranexamic Acid (4mg/mL) as Intradermal Treatments of Melasma.

J Coll Physicians Surg Pak 2021 May;30(5):502-505

Department of Dermatology, Sheikh Zaid Hospital, Rahim Yar Khan, Pakistan.

Objective: To compare the efficacy of intradermal platelet-rich-plasma vs. intradermal tranexamic acid in treatment of melasma.

Study Design: Non-randomised controlled trial. Read More

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Partial unilateral lentiginosis: a clinicopathological analysis of 32 cases on the head and neck area in Korea.

Int J Dermatol 2021 May 21. Epub 2021 May 21.

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

Background: Partial unilateral lentiginosis (PUL) is a rare acquired circumscribed hyperpigmentation characterized by multiple simple lentigines involving half of the body. Since the previous studies of PUL were mostly based on case reports and the current literature lacks well-designed retrospective studies that involve a large number of cases, PUL is not a well-defined entity, and differential diagnosis with nevus spilus is still difficult. This study aims to evaluate clinical and histopathological characteristics and treatment outcomes of PUL on head and neck area of Koreans. Read More

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Epigenetic regulation of melanogenesis.

Ageing Res Rev 2021 08 10;69:101349. Epub 2021 May 10.

Department of Dermatology, Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha, Hunan, 410013, PR China. Electronic address:

Melanogenesis is a complex process in which melanin is synthesized in melanocytes and transported to keratinocytes, which involves multiple genes and signaling pathways. Epigenetics refers to the potential genetic changes that affect gene expression without involving changes in the original sequence of DNA nucleotides. DNA methylation regulates the expression of key genes such as tyrosinase (TYR), tyrosinase-related protein 1 (TYRP1), dopachrome tautomerase (DCT) and microphthalmia-associated transcription factor (MITF), as well as paracrine factors such as stem cell factor (SCF) and endothelin-1 (ET-1) in melanogenesis. Read More

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Topical Band-pass Filter Cream (TBFC)-assisted home-based NB-UVB: A must-know Alternative to artificial phototherapy.

J Cosmet Dermatol 2021 Jul 25;20(7):2141-2147. Epub 2021 May 25.

Department of Dermatology & Dermatosurgery, Skinnocence: The Skin Clinic & Research Center, Gurugram, India.

Background: Treatment-refractory lesions of vitiligo and psoriasis are typically associated with significant psychological morbidity. Although narrowband-ultraviolet B (NB-UVB) phototherapy remains one of the safest and effective treatment modalities, the cost and logistics related to the access and high cost of therapy delivered artificially via devices/chambers become highly restrictive. The use of topical Photocil®, a novel topical band-pass filter cream (TBFC), that selectively filters solar radiation, biasing toward delivery of 311-313 nm (action spectrum of NB-UVB) to the treated lesions, following the exposure of TBFC-smeared lesions to natural sunlight offsets many aforementioned limitations of artificial phototherapy. Read More

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[Analysis of genetic variation for a child affected with congenital insensitivity to pain with anhidrosis and albinism by whole genome sequencing].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 May;38(5):472-476

School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China.

Objective: To explore the genetic variation of a Chinese family affected with congenital insensitivity to pain with anhidrosis and albinism.

Methods: Whole exome sequencing (WES) was carried out to screen potential variants within genomic DNA extracted from the proband and his parents. Whole genome sequencing (WGS) was applied when variants were not found completely. Read More

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COVID-19: The experience from Beijing, China.

Authors:
Fen Peng

Clin Dermatol 2021 Jan-Feb;39(1):9-11. Epub 2020 Dec 15.

Department of Dermatology, Beijing Chao-Yang Hospital, Capital Medical University, Beijing, China. Electronic address:

The epidemiology of coronavirus disease 2019 (COVID-19) in Beijing, China, is summarized. This presentation highlights its main clinical manifestations, including the skin findings in Beijing and sums up the cutaneous damage to the medical staff in their epidemic preventative work. Although there had been few COVID-19 patients who reported skin lesions in Beijing and even in China, dermatologists still needed to pay attention to self-protection in their daily work. Read More

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Angio-tropic melanocytes: Possibly a distinctive finding in extra-facial acquired dermal melanocytosis.

Indian J Dermatol Venereol Leprol 2021 Apr 23:1-6. Epub 2021 Apr 23.

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

Background: Acquired dermal melanocytosis is a heterogenous group of hyperpigmented lesioins which predominantly involve the face.

Aim: The aim of this study was to study the clinical presentation and histopathology of cases with extra-facial acquired dermal melanocytosis.

Methods: Retrospective record analysis was performed between May 2016 to August 2019 to retrieve cases of extra-facial acquired dermal melanocytosis seen at the out-patient department of dermatology at the All India Institute of Medical Sciences, Jodhpur. Read More

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Audio-vestibular Abnormalities in Patients With Vitiligo: A Prospective Case-control Study.

Otol Neurotol 2021 06;42(5):e514-e520

Faculty of Medicine, Tanta University, Tanta, Egypt.

Introduction: Vitiligo is a disease that is characterized by a deficit of functional melanocytes all over the body including the inner ear.

Objectives: To study the effect of the reduction of melanocytes on the audio-vestibular system in patients with vitiligo.

Subjects And Methodology: Our study included 35 patients with vitiligo (study group) and 35 healthy volunteers (control group). Read More

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Ectropion Uveae in neurofibromatosis type 1: a new manifestation.

Clin Ter 2021 05;172(3):206-208

Dermatologic Clinic, "Sapienza" University of Rome, Rome, Italy.

Abstract: Neurofibromatosis type 1 (NF1) is a rare genetic disorder with an autosomal dominant transmission and an estimated incidence of 1:2500-3500 live birth. Penetrance is virtually 100%, but the expression is highly variable and almost every organ can be affected. Diagnosis of NF1 is made with at least two of the following diagnostic criteria: six or more cafè-au-lait spots, two neurofibromas or one plexiform neurofibroma, axillary or groin freckling, optic glioma, two Lisch nodules, bone dysplasia and first-degree relative with NF1. Read More

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Dermoscopy in Leprosy: A Clinical and Histopathological Correlation Study.

Dermatol Pract Concept 2021 Mar 12;11(2):e2021032. Epub 2021 Apr 12.

Department of Dermatology, Venereology and Leprosy, Government Medical College, Kota, India.

Background: Leprosy, an insidious infectious granulomatous disease, is diagnosed traditionally through clinical examination coupled with skin smears and histopathology. It has myriad clinical presentations that pose diagnostic challenges. Lately, dermoscopy has emerged as a rapid, noninvasive diagnostic modality for many dermatoses. Read More

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Hypopigmented atrophic plaques in a young woman.

BMJ 2021 05 5;373:n1012. Epub 2021 May 5.

Department of Dermatology, Safdarjung Hospital, New Delhi, India.

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Hyperpigmentation from Addison's Disease.

N Engl J Med 2021 May;384(18):1752

University of the Witwatersrand, Johannesburg, South Africa

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Ein abstraktes Kunstwerk auf Duodenalschleimhaut.

MMW Fortschr Med 2021 03;163(Suppl 1):21

, München, Deutschland.

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Cordycepin inhibits the proliferation of malignant peripheral nerve sheath tumor cells through the p53/Sp1/tubulin pathway.

Am J Cancer Res 2021 15;11(4):1247-1266. Epub 2021 Apr 15.

Institute for Systems Biology Seattle, Washington, USA.

Neurofibromatosis type 1 (NF1) is one of the most common hereditary neurocutaneous disorders. In addition to skin pigmentation and cutaneous neurofibroma, some patients developed the plexiform neurofibroma since birth. Plexiform neurofibroma has abundant Schwann cells, fibroblasts, mast cells, blood vessels, and connective tissues, which increases the risk of developing a malignant peripheral nerve sheath tumor (MPNST). Read More

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