Literature DB >> 25704935

Pigmentary disorders of the eyes and skin.

Syril Keena T Que1, Gillian Weston1, Jeanine Suchecki2, Janelle Ricketts3.   

Abstract

Oculocutaneous albinism, Menkes syndrome, tuberous sclerosis, neurofibromatosis type 1, dyskeratosis congenita, lentiginosis profusa syndrome, incontinentia pigmenti, and Waardenburg syndrome all are genodermatoses that have well established gene mutations affecting multiple biological pathways, including melanin synthesis, copper transport, cellular proliferation, telomerase function, apoptosis, and melanocyte biology. Onchocerciasis results from a systemic inflammatory response to a nematode infection. Hypomelanosis of Ito is caused by chromosomal mosaicism, which underlies its phenotypic heterogeneity. Incomplete migration of melanocytes to the epidermis and other organs is the underlying feature of nevus of Ota. Vogt-Koyangi-Harada and vitiligo have an autoimmune etiology; the former is associated with considerable multiorgan involvement, while the latter is predominantly skin-limited.
Copyright © 2015 Elsevier Inc. All rights reserved.

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Year:  2015        PMID: 25704935     DOI: 10.1016/j.clindermatol.2014.10.007

Source DB:  PubMed          Journal:  Clin Dermatol        ISSN: 0738-081X            Impact factor:   3.541


  10 in total

Review 1.  Common Pediatric Skin Lesions: A Comprehensive Review of the Current Literature.

Authors:  Faryan Jalalabadi; Jeffrey G Trost; Joshua A Cox; Edward I Lee; Crystal Y Pourciau
Journal:  Semin Plast Surg       Date:  2016-08       Impact factor: 2.314

2.  Understanding mutational effects in digenic diseases.

Authors:  Andrea Gazzo; Daniele Raimondi; Dorien Daneels; Yves Moreau; Guillaume Smits; Sonia Van Dooren; Tom Lenaerts
Journal:  Nucleic Acids Res       Date:  2017-09-06       Impact factor: 16.971

3.  Progressive Depigmentation in a Patient with Panuveitis and Meningitis.

Authors:  Jessica Cervantes; Alexandra Price; Kate Oberlin; Alyx Rosen
Journal:  Skin Appendage Disord       Date:  2017-06-24

Review 4.  Melanosome Biogenesis in the Pigmentation of Mammalian Skin.

Authors:  Linh Le; Julia Sirés-Campos; Graça Raposo; Cédric Delevoye; Michael S Marks
Journal:  Integr Comp Biol       Date:  2021-10-14       Impact factor: 3.326

Review 5.  Laser treatment of medical skin disease in women.

Authors:  C LaRosa; A Chiaravalloti; S Jinna; W Berger; J Finch
Journal:  Int J Womens Dermatol       Date:  2017-07-21

6.  Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

Authors:  Jackson Gao; Leera D'Souza; Keith Wetherby; Christian Antolik; Melissa Reeves; David R Adams; Santa Tumminia; Xinjing Wang
Journal:  Cell Biosci       Date:  2017-04-26       Impact factor: 7.133

7.  MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome.

Authors:  Rong Yu; Lv Liu; Ya-Li Li; Liang-Liang Fan
Journal:  Biomed Res Int       Date:  2021-01-11       Impact factor: 3.411

Review 8.  The spectrum of melanocytic nevi and their clinical implications.

Authors:  Nina Frischhut; Bernhard Zelger; Fiona Andre; Bettina Gudrun Zelger
Journal:  J Dtsch Dermatol Ges       Date:  2022-04       Impact factor: 5.231

9.  A Classic Case of Tuberous Sclerosis with Multisystem Involvement Including Giant Bilateral Renal Angiomyolipomas Presenting as Massive Hematuria.

Authors:  Kewal A Mistry; Dinesh Sood; Rohit Bhoil; Veenal Chadha; Ajay K Ahluwalia; Saurabh Sood; Pokhraj P Suthar
Journal:  Pol J Radiol       Date:  2015-09-21

10.  An Orbital Malignant Melanoma Arising in Cellular Blue Nevus in a Patient with Nevus of Ota.

Authors:  Talayesa Buntinx-Krieg; Jie Ouyang; Mont Cartwright
Journal:  Cureus       Date:  2016-07-18
  10 in total

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