Literature DB >> 19945620

Laryngo-onycho-cutaneous syndrome.

Heather Irina Cohn1, Dédée F Murrell.   

Abstract

Laryngo-onycho-cutaneous (LOC) syndrome was reclassified as a subtype of junctional epidermolysis bullosa (JEB) based on clinical features similar to JEB and its association, in the majority of patients from the Punjab, with a unique mutation affecting the N terminus of the alpha3 chain of LM332. Although LOC syndrome is now a subtype of JEB(JEB-LOC) JEB-LOC has a distinct clinicopathologic appearance and molecular fingerprint. The intricacies of the JEB-LOC subtype are discussed in this article with regard to disease presentation, pathogenesis, management, and prognosis.

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Year:  2010        PMID: 19945620     DOI: 10.1016/j.det.2009.10.010

Source DB:  PubMed          Journal:  Dermatol Clin        ISSN: 0733-8635            Impact factor:   3.478


  4 in total

Review 1.  [Mucosal manifestations of epidermolysis bullosa : Clinical presentation and management].

Authors:  C Prodinger; A Diem; J W Bauer; M Laimer
Journal:  Hautarzt       Date:  2016-10       Impact factor: 0.751

2.  A Rare Skin Disorder Misdiagnosed as Juvenile Idiopathic Arthritis.

Authors:  Sumantra Sarkar; Rabi Kumar; Madhumita Nandi
Journal:  Indian J Pediatr       Date:  2015-11-12       Impact factor: 1.967

3.  Identification and Computational Analysis of Novel Pathogenic Variants in Pakistani Families with Diverse Epidermolysis Bullosa Phenotypes.

Authors:  Fehmida F Khan; Naima Khan; Sakina Rehman; Amir Ejaz; Uzma Ali; Muhammad Erfan; Zubair M Ahmed; Muhammad Naeem
Journal:  Biomolecules       Date:  2021-04-22

4.  Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa.

Authors:  Susanne Krämer; James Lucas; Francisca Gamboa; Miguel Peñarrocha Diago; David Peñarrocha Oltra; Marcelo Guzmán-Letelier; Sanchit Paul; Gustavo Molina; Lorena Sepúlveda; Ignacio Araya; Rubén Soto; Carolina Arriagada; Anne W Lucky; Jemima E Mellerio; Roger Cornwall; Fatimah Alsayer; Reinhard Schilke; Mark Adam Antal; Fernanda Castrillón; Camila Paredes; Maria Concepción Serrano; Victoria Clark
Journal:  Spec Care Dentist       Date:  2020-11
  4 in total

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