Literature DB >> 8302737

An X-linked reticulate pigmentary disorder with systemic manifestations: report of a second family.

L C Adès1, M Rogers, D O Sillence.   

Abstract

Another family manifesting an X-linked, reticulate, pigmentary dermatosis, previously familial cutaneous amyloidosis, has been observed. The disorder is characterized in males in this family by onset in the first year of recurrent episodes of respiratory illness including pneumonia, a progressive reticulate pigmentation of the skin, hypohidrosis, and photophobia. The absence of amyloid deposits in the skin in both the mother and sons confirms that less emphasis should be given to the word "amyloidosis" in naming the disorder.

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Year:  1993        PMID: 8302737     DOI: 10.1111/j.1525-1470.1993.tb00396.x

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN: 0736-8046            Impact factor:   1.588


  6 in total

1.  Evolution of the skin manifestations of X-linked pigmentary reticulate disorder.

Authors:  P Starokadomskyy; L Sifuentes-Dominguez; T Gemelli; A R Zinn; M T Dossi; C Mellado; P Bertrand; A Borzutzky; E Burstein
Journal:  Br J Dermatol       Date:  2017-10-08       Impact factor: 9.302

2.  X-linked reticulate pigmentary disorder in a 4-year-old boy.

Authors:  Yu-Kun Zhao; Li-Hua Fan; Jing-Fa Lu; Ze-Yu Luo; Zhi-Miao Lin; Hui-Jun Wang; Di-Qing Luo
Journal:  Postepy Dermatol Alergol       Date:  2022-05-09       Impact factor: 1.664

3.  Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes.

Authors:  Lane J Jaeckle Santos; Chao Xing; Robert B Barnes; Lesley C Ades; Andre Megarbane; Christopher Vidal; Angela Xuereb; Patrick S Tarpey; Raffaella Smith; Mahmoud Khazab; Cheryl Shoubridge; Michael Partington; Andrew Futreal; Michael R Stratton; Jozef Gecz; Andrew R Zinn
Journal:  Hum Genet       Date:  2008-04-11       Impact factor: 4.132

4.  DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.

Authors:  Petro Starokadomskyy; Terry Gemelli; Jonathan J Rios; Chao Xing; Richard C Wang; Haiying Li; Vladislav Pokatayev; Igor Dozmorov; Shaheen Khan; Naoteru Miyata; Guadalupe Fraile; Prithvi Raj; Zhe Xu; Zigang Xu; Lin Ma; Zhimiao Lin; Huijun Wang; Yong Yang; Dan Ben-Amitai; Naama Orenstein; Huda Mussaffi; Eulalia Baselga; Gianluca Tadini; Eyal Grunebaum; Adrijan Sarajlija; Konrad Krzewski; Edward K Wakeland; Nan Yan; Maria Teresa de la Morena; Andrew R Zinn; Ezra Burstein
Journal:  Nat Immunol       Date:  2016-03-28       Impact factor: 25.606

Review 5.  Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

Authors:  Megan Schmit; Anja-Katrin Bielinsky
Journal:  Int J Mol Sci       Date:  2021-01-18       Impact factor: 5.923

6.  NK cell defects in X-linked pigmentary reticulate disorder.

Authors:  Petro Starokadomskyy; Katelynn M Wilton; Konrad Krzewski; Adam Lopez; Luis Sifuentes-Dominguez; Brittany Overlee; Qing Chen; Ann Ray; Aleksandra Gil-Krzewska; Mary Peterson; Lisa N Kinch; Luis Rohena; Eyal Grunebaum; Andrew R Zinn; Nick V Grishin; Daniel D Billadeau; Ezra Burstein
Journal:  JCI Insight       Date:  2019-11-01
  6 in total

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