COL7A1 G2287R mutation with two clinical phenotypes in the same family: Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa

J Dermatol. 2022 Sep;49(9):e313-e314. doi: 10.1111/1346-8138.16430. Epub 2022 May 13.

Authors

Yuan-Chen Chao¹, Jin-Bon Hong², Connie Liu¹, Meng-Sui Lee^{1

3}, Ruey-Yi Lin¹

Affiliations

¹ Department of Dermatology, Taipei City Hospital, Taipei, Taiwan.
² Department of Dermatology, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan.
³ Faculty of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.

PMID: 35560343
DOI: 10.1111/1346-8138.16430

No abstract available

Publication types

Letter

MeSH terms

Collagen Type VII / genetics
Epidermolysis Bullosa Dystrophica* / diagnosis
Epidermolysis Bullosa Dystrophica* / genetics
Humans
Mutation
Pedigree
Phenotype

Substances

COL7A1 protein, human
Collagen Type VII

Supplementary concepts

Epidermolysis Bullosa Pruriginosa