Literature DB >> 7231902

Hereditary benign intraepithelial dyskeratosis. A report of two cases from Texas.

I W McLean, P J Riddle, J H Schruggs, D B Jones.   

Abstract

Hereditary benign intraepithelial dyskeratosis (HBID) is a rare disorder characterized by autosomal dominant inheritance, onset in childhood, bilateral limbal conjunctival plaques, chronic relapsing course of ocular irritation and photophobia, and oral lesions resistant to medical and surgical therapy. The lesions are characterized histologically by dyskeratosis, acanthosis, parakeratosis, and a variable amount of subepithelial inflammation. The patients in all previously reported cases have been descendants of Halowar Indians from North Carolina. This report illustrates the typical clinical and histologic findings of HBID in two siblings who, along with their parents and grandparents, were born in Texas.

Entities:  

Mesh:

Year:  1981        PMID: 7231902     DOI: 10.1016/s0161-6420(81)35058-1

Source DB:  PubMed          Journal:  Ophthalmology        ISSN: 0161-6420            Impact factor:   12.079


  3 in total

1.  A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis.

Authors:  R R Allingham; B Seo; E Rampersaud; M Bembe; P Challa; N Liu; T Parrish; L Karolak; J Gilbert; M A Pericak-Vance; G K Klintworth; J M Vance
Journal:  Am J Hum Genet       Date:  2001-01-16       Impact factor: 11.025

2.  Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus Heterogeneity.

Authors:  Tina Bui; Jonathan W Young; Ricardo F Frausto; Thomas C Markello; Ben J Glasgow; Anthony J Aldave
Journal:  Ophthalmic Genet       Date:  2014-02-20       Impact factor: 1.803

3.  Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis.

Authors:  Vincent José Soler; Khanh-Nhat Tran-Viet; Stéphane D Galiacy; Vachiranee Limviphuvadh; Thomas Patrick Klemm; Elizabeth St Germain; Pierre R Fournié; Céline Guillaud; Sebastian Maurer-Stroh; Felicia Hawthorne; Cyrielle Suarez; Bernadette Kantelip; Natalie A Afshari; Isabelle Creveaux; Xiaoyan Luo; Weihua Meng; Patrick Calvas; Myriam Cassagne; Jean-Louis Arné; Steven G Rozen; François Malecaze; Terri L Young
Journal:  J Med Genet       Date:  2013-01-24       Impact factor: 6.318

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.