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Melanocytes and Their Diseases
Downloaded from http://perspectivesinmedicine.cshlp.org/ on October 2, 2021 - Published by Cold Spring Harbor Laboratory Press Melanocytes and Their Diseases Yuji Yamaguchi1 and Vincent J. Hearing2 1Medical, AbbVie GK, Mita, Tokyo 108-6302, Japan 2Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892 Correspondence: [email protected] Human melanocytes are distributed not only in the epidermis and in hair follicles but also in mucosa, cochlea (ear), iris (eye), and mesencephalon (brain) among other tissues. Melano- cytes, which are derived from the neural crest, are unique in that they produce eu-/pheo- melanin pigments in unique membrane-bound organelles termed melanosomes, which can be divided into four stages depending on their degree of maturation. Pigmentation production is determined by three distinct elements: enzymes involved in melanin synthesis, proteins required for melanosome structure, and proteins required for their trafficking and distribution. Many genes are involved in regulating pigmentation at various levels, and mutations in many of them cause pigmentary disorders, which can be classified into three types: hyperpigmen- tation (including melasma), hypopigmentation (including oculocutaneous albinism [OCA]), and mixed hyper-/hypopigmentation (including dyschromatosis symmetrica hereditaria). We briefly review vitiligo as a representative of an acquired hypopigmentation disorder. igments that determine human skin colors somes can be divided into four stages depend- Pinclude melanin, hemoglobin (red), hemo- ing on their degree of maturation. Early mela- siderin (brown), carotene (yellow), and bilin nosomes, especially stage I melanosomes, are (yellow). Among those, melanins play key roles similar to lysosomes whereas late melanosomes in determining human skin (and hair) pigmen- contain a structured matrix and highly dense tation. -
Uniform Faint Reticulate Pigment Network - a Dermoscopic Hallmark of Nevus Depigmentosus
Our Dermatology Online Letter to the Editor UUniformniform ffaintaint rreticulateeticulate ppigmentigment nnetworketwork - A ddermoscopicermoscopic hhallmarkallmark ooff nnevusevus ddepigmentosusepigmentosus Surit Malakar1, Samipa Samir Mukherjee2,3, Subrata Malakar3 11st Year Post graduate, Department of Dermatology, SUM Hospital Bhubaneshwar, India, 2Department of Dermatology, Cloud nine Hospital, Bangalore, India, 3Department of Dermatology, Rita Skin Foundation, Kolkata, India Corresponding author: Dr. Samipa Samir Mukherjee, E-mail: [email protected] Sir, ND is a form of cutaneous mosaicism with functionally defective melanocytes and abnormal melanosomes. Nevus depigmentosus (ND) is a localized Histopathologic examination shows normal to hypopigmentation which most of the time is congenital decreased number of melanocytes with S-100 stain and and not uncommonly a diagnostic challenge. ND lesions less reactivity with 3,4-dihydroxyphenylalanine reaction are sometimes difficult to differentiate from other and no melanin incontinence [2]. Electron microscopic hypopigmented lesions like vitiligo, ash leaf macules and findings show stubby dendrites of melanocytes nevus anemicus. Among these naevus depigmentosus containing autophagosomes with aggregates of poses maximum difficulty in differentiating from ash melanosomes. leaf macules because of clinical as well as histological similarities [1]. Although the evolution of newer diagnostic For ease of understanding the pigmentary network techniques like dermoscopy has obviated the -
Skin Pigmentary Variants in Rana Nigromaculata
Original Article J. Clin. Biochem. Nutr., 38, 195–203, May 2006 Skin Pigmentary Variants in Rana Nigromaculata Ichiro Tazawa, Hitoshi Okumoto, and Akihiko Kashiwagi* Division of Embryology and Genetics, Institute for Amphibian Biology, Graduate School of Science, Hiroshima University, 1-3-1 Kagamiyama, Higashihiroshima, Hiroshima 739-8526, Japan Received 22 December, 2005; Accepted 26 January, 2006 Summary Because there is mounting evidence to suggest that oxidative stress is involved in the pathophysiology of albinism, albino amphibians are useful tools for studies on imbalances in the oxidant-antioxidant system. In the course of maintaining albino mutant frog strains it was found that crosses between albino males and heterozygous females of Rana nigromaculata sometimes produce offspring displaying pigmentary mosaicism. After hatching hypopigmented portions appear on the left or right side of the body, and this is accompanied by such abnormalities as poor viability, asymmetrical curvature of the body toward the hypopigmented side, and limb deformity. Histological examination of mosaics showed the cells of various tissues (except kidney) to be smaller on the hypopigmented side and larger on the pigmented side compared to corresponding cells in wild type offspring. Cytogenetic analysis of cultured skin cells revealed that wild type and albino individuals were diploidal with 26 chromosomes, the same as normal R. nigromaculata. In mosaics on the other hand, cells of hypopigmented portions were almost exclusively haploidal with 13 chromosomes, while pigmented portions were a mixture of roughly 75% triploidal, 39 chromosome cells and roughly 25% haploidal, 13 chromosome cells. Key Words: albino, unilateral pigmentation, pigmentary mosaicism, chromosomal mosaicism, mixoploidy, haploid, triploid, Rana one means of assessing the involvement of reactive oxygen Introduction species (ROS) in biological processes such as aging. -
Colocalized Nevus Depigmentosus and Lentigines Prashansa Jaiswal, Sundeep Chowdhry, Paschal D’ Souza
2XU'HUPDWRORJ\2QOLQH Case Report Colocalized nevus depigmentosus and lentigines Prashansa Jaiswal, Sundeep Chowdhry, Paschal D’ Souza Department of Dermatology, Venereology and Leprology, Employees’ State Insurance Corporation Post Graduate Institute of Medical Sciences & Research, Basaidarapur, New Delhi - 110 015, India Corresponding author: Assist. Prof. Sundeep Chowdhry, E-mail: [email protected] ABSTRACT Nevus depigmentosus (ND)is classically defined as a congenital nonprogressive hypopigmented macule, stable in size and distribution. A 17 year girl presented with hypopigmented patch with indented borders, present on the right side of face and neck since 3 years of age. Later on at the age of 5, numerous hyperpigmented punctiform spots appeared exclusively on the hyperpigmented area. On sun exposure, the hypopigmented area neither reddened nor burnt. On diascopy the margin of the hypopigmented lesion remained delineated. The dermoscopic examination showed 1-4 millimeters sized hyperpigmented lesions with a barely visible pseudonet, leading to the final diagnosis of colocalized nevus depigmentosus and lentigines. Key words: Nevus; Hypopigmentation; Reverse; Mutation; Pigmentation INTRODUCTION 25 X 8 centimeters was present at the angle of mouth on right side, further extending to lateral side of right ear, Nevus depigmentosus (ND)is a rare, congenital, right angle of jaw, lateral right side of neck to about 6 stable hypomelanosis first described by Lesser in centimeters below the clavicle. It was irregular in shape 1884 [1]. The lesions usually present as dermatomal with serrated irregular margins. The surface was smooth or quasidermatomal macules commonly on the trunk, and had multiple oval dark brown coloured macules of lower abdomen, or proximal extremities. They are off- 1 to 4 mm in size (Fig. -
Phacomatosis Spilorosea Versus Phacomatosis Melanorosea
Acta Dermatovenerologica 2021;30:27-30 Acta Dermatovenerol APA Alpina, Pannonica et Adriatica doi: 10.15570/actaapa.2021.6 Phacomatosis spilorosea versus phacomatosis melanorosea: a critical reappraisal of the worldwide literature with updated classification of phacomatosis pigmentovascularis Daniele Torchia1 ✉ 1Department of Dermatology, James Paget University Hospital, Gorleston-on-Sea, United Kingdom. Abstract Introduction: Phacomatosis pigmentovascularis is a term encompassing a group of disorders characterized by the coexistence of a segmental pigmented nevus of melanocytic origin and segmental capillary nevus. Over the past decades, confusion over the names and definitions of phacomatosis spilorosea, phacomatosis melanorosea, and their defining nevi, as well as of unclassifi- able phacomatosis pigmentovascularis cases, has led to several misplaced diagnoses in published cases. Methods: A systematic and critical review of the worldwide literature on phacomatosis spilorosea and phacomatosis melanorosea was carried out. Results: This study yielded 18 definite instances of phacomatosis spilorosea and 14 of phacomatosis melanorosea, with one and six previously unrecognized cases, respectively. Conclusions: Phacomatosis spilorosea predominantly involves the musculoskeletal system and can be complicated by neuro- logical manifestations. Phacomatosis melanorosea is sometimes associated with ancillary cutaneous lesions, displays a relevant association with vascular malformations of the brain, and in general appears to be a less severe syndrome. -
Preceded by Multiple Diagnostic. X-Rays One Year Prior to The
A Malformation Complex of Ectrodactyly, Clefting and Hypomelanosis of Ito (Incontinentia Pigmenti Achromians) RAY E. STEWART, D.M.D., M.S. STEVEN FUNDERBURK, M.D. YOSHIO SETOGUCHI, M.D. Torrance, California 90509 A case is described which, at birth, had a bizarre pattern of Aypopigmentation (incontinentia pigment achromians), ectrodactyly involving all four extremities, and unilateral cleft lip and palate. This patient does not have the seizures or other neurological and developmental anomalies previously described as associated with Aypopigmentation of Ito. This condition is also clearly different from the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC). We have recently observed four-month-old tone. The child has developed normally, Mexican-American female infant with an in- reaching all of her age-appropriate milestones teresting constellation of anomalies, including with no evidence of neurological or other _ unilateral complete clefts of the lip and pal- problems. The Denver Developmental Scales ate, ectrodactyly of the hands and feet, and yielded an intelligence quotient of 100 at 14 generalized abnormalities in skin pigmenta- months of age. tion. The association of ectodermal changes, Examination of the head and neck revealed ectrodactyly, and oralfacial clefting has been unilateral complete cleft of the lip and palate. well documented in the EEC syndrome (ec- There was mild hypoplasia of the right exter- trodactyly, ectodermal dysplasia, and clefting nal ear (Figure 1). syndrome). However, this patient clearly does Examination of the skin revealed a peculiar not fall into this classification. generalized pattern of hypopigmentation over the entire body, including the head, neck, and Clinical findings face. On the dorsum, the pigmentation as- The child was the product of a full-term, sumed a swirling pattern. -
Nevus Depigmentosus
Journal of Dermatology & Cosmetology Commentary Open Access Nevus depigmentosus Introduction Volume 1 Issue 1 - 2017 Nevus Depigmentosus (nevus achromicus) is a rare congenital pigmentary disorder. It is a depigmentation problem in skin which can Hayk S Arakelyan be easily differentiated from vitiligo. Nevus anemic us is a congenital General Medicine and Clinical Research, Armenian University of vascular anomaly that presents clinically as a hypo pigmented macule Integrative Medicine, Armenia or patch. Correspondence: Hayk S Arakelyan, Doctor of Medical The pathogenesis of ND is not fully understood. It is believed Sciences, PhD, Senior Expert of Interactive Clinical to be due to a functional defect of melanocytes with morphological Pharmacology, Drug Safety, Treatment Tactics, General Medicine abnormalities of melanosomes. It is also said to be a form of cutaneous and Clinical Research. Armenian University of Integrative mosaicism wherein an altered clone of melanocyte have a decreased Medicine, Armenia, Tel (37491)-40-94-97, Email [email protected] ability to synthesize melanin and transport to keratinocytes. Received: March 28, 2017 | Published: April 04, 2017 It can be found anywhere on the body but commonly it is seen on the trunk, neck, face, and proximal part of the extremities. Clinically, three types have been described: Localized Segmental, and Linear or Whorled. Localized variant is the most common compared to the others. It is a single well circumscribed lesion with serrated Acknowledgements borders. Segmental variant is larger in size and shape and also referred to as “segmental de-pigmentation disorder” with a sharp midline None. demarcation. Linear/whorled/systematized type may be extensive and have cutaneous lesions that overlap with HOI.( hypomelanosis of Ito ) Conflict of interest The systematized variant is very rare and may have extra cutaneous The author declares no conflict of interest. -
Dermoscopy of Inflammatory Dermatoses (Inflammoscopy): an Up-To-Date Overview
Dermatology Practical & Conceptual Dermoscopy of Inflammatory Dermatoses (Inflammoscopy): An Up-to-Date Overview Enzo Errichetti1 1 Institute of Dermatology, Santa Maria della Misericordia University Hospital, Udine, Italy Key words: dermoscopy, differential diagnosis, general dermatology, inflammoscopy Citation: Errichetti E. Dermoscopy of inflammatory dermatoses (inflammoscopy): an up-to-date overview. Dermatol Pract Concept. 2019;9(3):169-180. DOI: https://doi.org/10.5826/dpc.0903a01 Accepted: June 2, 2019; Published: July 31, 2019 Copyright: ©2019 Errichetti. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Funding: None. Competing interests: The author has no conflicts of interest to disclose. Authorship: The author takes responsibility for this publication. Corresponding author: Enzo Errichetti, MD, MSc, Institute of Dermatology, Santa Maria della Misericordia University Hospital, Piazzale Santa Maria della Misericordia, 15, 33100 Udine, Italy. Email: [email protected] ABSTRACT In addition to its use in pigmented and nonpigmented skin tumors, dermoscopy is gaining apprecia- tion in assisting the diagnosis of nonneoplastic diseases, especially inflammatory dermatoses (inflam- moscopy). In this field, dermoscopic examination should be considered as the second step of a “2-step procedure,” always preceded by the establishment of a differential diagnosis on the basis of clinical examination. In this paper, we sought to provide an up-to-date overview on the use of dermoscopy in common inflammatory dermatoses based on the available literature data. For practical purposes, the analyzed dermatoses are grouped according to the clinical presentation pattern, in line with the 2-step procedure principle: erythematous-desquamative and papulosquamous dermatoses, papulokeratotic dermatoses, erythematous facial dermatoses, sclero-atrophic dermatoses, and miscellaneous. -
Vitiligo: to Biopsy Or Not to Biopsy?
COMMENTARY Vitiligo: To Biopsy or Not To Biopsy? María Eugenia Mazzei Weiss, MD he histopathologic diagnosis of vitiligo is classi- these histologic findings, it is common to find spongiosis, cally understood as the absence of melanocytes mononuclear superficial perivascular inflammatory infil- T and melanin in the skin biopsy.1 It is difficult for a trate, and melanophages in biopsies of vitiligo.3 pathologist to establish the absolute absence of melano- Given that ensuring the absence of melanocytes is cytes and melanin in a skin biopsy. Therefore, we need to central to diagnosis and melanocytes can be difficult to take into consideration many variables when we face the identify or differentiate from repositioned Langerhans possibility to biopsy a vitiligo lesion. cells in the basal layercopy with hematoxylin and eosin stain, The basis of the clinical diagnosis of vitiligo is the immunohistochemical techniques must be performed appearance of achromic lesions in periorificial and acral every time we are dealing with vitiligo biopsies. Although areas; however, sometimes it is difficult to differentiate there are no studies comparing the diagnostic value of between an achromic or hypochromic lesion. Although the different immunohistochemical techniques in vitiligo, Wood light is of great help in these circumstances, it still dihydroxyphenylalaninenot (DOPA) seems to be a good can be difficult to make the diagnosis with certainty. option, as it will only mark active melanocytes. Human In other cases, the lesions do not present a classic melanoma black 45 (HMB-45), anti-TYRP1 (Mel-5), and distribution of vitiligo, and other differential diagnoses antimelanoma gp 100 antibody (NKI/beteb) also have are considered. -
Pigmented Nevi Within Segmental Nevus Depigmentosus
Journal of Pakistan Association of Dermatologists . 2015; 25 (1) :76-77. Short Communication General physical examination and systemic Pigmented nevi within examinations were unremarkable. Cutaneous segmental nevus examination revealed a hypopigmented patch measuring about 25cm x 15cm situated over the depigmentosus - a right side of the lateral aspect of the neck rare case extending to the right shoulder and right side of the upper back, along the C7-C8 dermatomes. Sir, nevus is the Latin word for ‘maternal There were multiple, brownish, round macules impression’ or ‘birthmark’ and indicates a measuring 5 to 10 mm interspersed within the circumscribed, non-neoplastic skin or mucosal hypopigmented macule. The hyperpigmented lesion, usually present at or soon after birth, and macules are confined only within the fixed. Many, possibly all, nevi represent clones hypopigmented macule and it was not present of genetically altered cells arising from elsewhere ( Figure 1 ). The hair in the mosaicism. Some of the nevi are commonly hypopigmented patch was not depigmented. encountered like, acquired melanocytic nevi, Wood’s lamp examination revealed an off-white Becker’s nevi and verrucous epidermal nevi. accentuation, in contrast to the chalky-white Some of them are extremely rare like, apocrine accentuation noted in vitiligo. Routine nevi, proteoglycan nevi, nevoid ichthyosis hematological and biochemical parameters were hystrix, kissing nevus and pigmented nevi within normal limits. Histopathological within nevus depigmentosus. Nevus spilus is examination of hypopigmented macule revealed comprised of a flat, macular component, subtly normal melanocyte number with decreased darker shade than the surrounding skin, melanin ( Figure 2 ). Histopathological resembling a café-au-lait spot. -
(12) United States Patent (10) Patent No.: US 7,359,748 B1 Drugge (45) Date of Patent: Apr
USOO7359748B1 (12) United States Patent (10) Patent No.: US 7,359,748 B1 Drugge (45) Date of Patent: Apr. 15, 2008 (54) APPARATUS FOR TOTAL IMMERSION 6,339,216 B1* 1/2002 Wake ..................... 250,214. A PHOTOGRAPHY 6,397,091 B2 * 5/2002 Diab et al. .................. 600,323 6,556,858 B1 * 4/2003 Zeman ............. ... 600,473 (76) Inventor: Rhett Drugge, 50 Glenbrook Rd., Suite 6,597,941 B2. T/2003 Fontenot et al. ............ 600/473 1C, Stamford, NH (US) 06902-2914 7,092,014 B1 8/2006 Li et al. .................. 348.218.1 (*) Notice: Subject to any disclaimer, the term of this k cited. by examiner patent is extended or adjusted under 35 Primary Examiner Daniel Robinson U.S.C. 154(b) by 802 days. (74) Attorney, Agent, or Firm—McCarter & English, LLP (21) Appl. No.: 09/625,712 (57) ABSTRACT (22) Filed: Jul. 26, 2000 Total Immersion Photography (TIP) is disclosed, preferably for the use of screening for various medical and cosmetic (51) Int. Cl. conditions. TIP, in a preferred embodiment, comprises an A6 IB 6/00 (2006.01) enclosed structure that may be sized in accordance with an (52) U.S. Cl. ....................................... 600/476; 600/477 entire person, or individual body parts. Disposed therein are (58) Field of Classification Search ................ 600/476, a plurality of imaging means which may gather a variety of 600/162,407, 477, 478,479, 480; A61 B 6/00 information, e.g., chemical, light, temperature, etc. In a See application file for complete search history. preferred embodiment, a computer and plurality of USB (56) References Cited hubs are used to remotely operate and control digital cam eras. -
Pigmentary Mosaicism: a Review of Original Literature And
Kromann et al. Orphanet Journal of Rare Diseases (2018) 13:39 https://doi.org/10.1186/s13023-018-0778-6 REVIEW Open Access Pigmentary mosaicism: a review of original literature and recommendations for future handling Anna Boye Kromann1, Lilian Bomme Ousager2, Inas Kamal Mohammad Ali1, Nurcan Aydemir1 and Anette Bygum1* Abstract Background: Pigmentary mosaicism is a term that describes varied patterns of pigmentation in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of cases, pigmentary mosaicism is observed alongside extracutaneous abnormalities typically involving the central nervous system and the musculoskeletal system. We have compiled information on previous cases of pigmentary mosaicism aiming to optimize the handling of patients with this condition. Our study is based on a database search in PubMed containing papers written in English, published between January 1985 and April 2017. The search yielded 174 relevant and original articles, detailing a total number of 651 patients. Results: Forty-three percent of the patients exhibited hyperpigmentation, 50% exhibited hypopigmentation, and 7% exhibited a combination of hyperpigmentation and hypopigmentation. Fifty-six percent exhibited extracutaneous manifestations. The presence of extracutaneous manifestations in each subgroup varied: 32% in patients with hyperpigmentation, 73% in patients with hypopigmentation, and 83% in patients with combined hyperpigmentation and hypopigmentation. Cytogenetic analyses were performed in 40% of the patients: peripheral blood lymphocytes were analysed in 48%, skin fibroblasts in 5%, and both analyses were performed in 40%. In the remaining 7% the analysed cell type was not specified. Forty-two percent of the tested patients exhibited an abnormal karyotype; 84% of those presented a mosaic state and 16% presented a non-mosaic structural or numerical abnormality.