نتایج جستجو برای: pigmentary anomalies

تعداد نتایج: 47330  

Journal: :Journal of the American Academy of Dermatology 2006
Pearl Grimes James J Nordlund Amit G Pandya Susan Taylor Marta Rendon Jean-Paul Ortonne

This article focuses on developments in pigmentary disorders that extend dermatologists' understanding of the field. Areas that are reviewed include the basic biochemistry, pharmacology, and physiology of the melanocortin system; melanosome development; genetic diseases associated with pigmentary disorders; pigmentary disorders secondary to systemic disease; drug-induced hyperpigmentation; envi...

Journal: :Proceedings of the Royal Society of Medicine 1926

2016
Bonnie Nga Kwan Choy Alex Lap Ki Ng Jennifer Wei Huen Shum Michelle Ching Yim Fan Jimmy Shiu Ming Lai

Chlorpromazine is known to cause ocular pigmentary deposits. However, delayed presentation after cessation of chlorpromazine has not been reported. There are also no reports on whether newer generation of anti-psychotic agents contribute to ocular toxicity. We describe a case of ocular toxicity related to anti-psychotic agents. To the best of our knowledge, this is the first reported case of an...

2013
Kavitha R Sivaraman Chirag G Patel Thasarat S Vajaranant Ahmad A Aref

Primary pigment dispersion syndrome (PPDS) is a bilateral condition that occurs in anatomically predisposed individuals. PPDS may evolve into pigmentary glaucoma, but it is difficult to predict which patients will progress. Secondary pigment dispersion is more often unilateral and acquired as a result of surgery, trauma, or intraocular tumor, but can likewise lead to pigmentary glaucoma. We rep...

1998
A. D. Martin R. G. Roberts W. J. Stirling R. S. Thorne

We present a new analysis of parton distributions of the proton. This incorporates a wide range of new data and an improved treatment of heavy flavours and prompt photon production. The new set (MRST) shows systematic differences from previous sets of partons which can be identified with particular features of the new data and with improvements in the analysis. We also investigate the sensitivi...

2013
Agnès Bloch-Zupan Morgan Rousseaux Virginie Laugel Matthieu Schmittbuhl Rémy Mathis Emmanuelle Desforges Mériam Koob Ariane Zaloszyc Hélène Dollfus Vincent Laugel

BACKGROUND Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosens...

Journal: :Clinical genetics 2011
I Ejarque V Uliana F Forzano C Marciano G Merla L Zelante E Di Maria F Faravelli

To the Editor : Kabuki syndrome (OMIM 147920), also known as Niikawa–Kuroki syndrome (NKS), is characterized by distinctive facial features, skeletal anomalies, dermatoglyphic abnormalities, mental retardation, and growth deficiency (1, 2). Recently, mutations in the MLL2 gene were identified as the genetic cause of NKS (3). Hardikar syndrome (HS; OMIM 612726) is a multiple congenital anomalies...

Journal: :American journal of medical genetics. Part C, Seminars in medical genetics 2004
Yasushi Tomita Tamio Suzuki

The genetic and molecular bases of various types of congenital pigmentary disorders have been classified in the past 10 years, as follows: (1) disorders of melanoblast migration in the embryo from the neural crest to the skin: piebaldism; Waardenburg syndrome 1-4 (WS1-WS4); dyschromatosis symmetrica hereditaria. (2) Disorders of melanosome formation in the melanocyte: Hermansky-Pudlak syndrome ...

2016
A. Campbell Munro

History.?In October 1910, the patient, Sepoy T. K., 27th Punjabis, showed me some pigmented spots on iiis face, hands and left leg. They first appeared in March, 1U0S, when the patient was living in Jhandola. He believed that quinine, which he was taking prophylactically at that time, caused their appearance. No fresh spots have appeared since then, but some of the original areas have increased...

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