A novel pathogenic variant in the corneodesmosin gene causing generalized inflammatory peeling skin syndrome with marked eosinophilia and trichorrhexis invaginata-Reference-Cited by-同舟云学术

A novel pathogenic variant in the corneodesmosin gene causing generalized inflammatory peeling skin syndrome with marked eosinophilia and trichorrhexis invaginata

Published:2022-02-17 Issue:2 Volume:39 Page:268-272
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatric Dermatology

Author:

Gordon Helen¹^ORCID,Yap Patrick²³⁴,Hsiao Kuang‐Chih⁵⁶⁷,Watson Michael⁸,Purvis Diana¹⁶^ORCID

Affiliation:

1. Department of Dermatology Starship Children's Health Auckland District Health Board Auckland New Zealand

2. Genetic Health Service New Zealand (Northern Hub) Auckland New Zealand

3. Diagnostic Genetics LabPLUS Auckland City Hospital Auckland New Zealand

4. Department of Molecular Medicine and Pathology University of Auckland Auckland New Zealand

5. Department of Immunology Starship Children's Health Auckland District Health Board Auckland New Zealand

6. Department of Paediatrics University of Auckland Auckland New Zealand

7. Allergy Immunology Research Murdoch Children's Research Institute Melbourne Victoria Australia

8. Department of Pathology Auckland District Health Board Auckland New Zealand

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.14939

Reference23 articles.

1. Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease

2. Elevated Human Tissue Kallikrein Levels in the Stratum Corneum and Serum of Peeling Skin Syndrome-Type B Patients Suggests an Over-desquamation of Corneocytes

3. Hair abnormality in Netherton syndrome observed under polarized light microscopy

4. Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships

5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology