Acantholytic dyskeratotic epidermal naevus and striate palmoplantar keratoderma associated with DSG1 mutation: evidence for segmental type 2 mosaicism-Reference-Cited by-同舟云学术

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Acantholytic dyskeratotic epidermal naevus and striate palmoplantar keratoderma associated with DSG1 mutation: evidence for segmental type 2 mosaicism

Published:2021-02-12 Issue:6 Volume:35 Page:
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:J Eur Acad Dermatol Venereol

Author:

Blecic A.‐S.¹,Pernin J.²,Jonca N.²,Mazereeuw‐Hautier J.²^ORCID,Jullie M.‐L.³,Cario‐André M.⁴,Léauté‐Labrèze C.¹,Boralevi F.¹,Morice‐Picard F.¹^ORCID

Affiliation:

1. Service de Dermatologie CHU de Bordeaux Bordeaux France

2. Service de Dermatologie CHU de Toulouse Toulouse France

3. Service d'Anatomopathologie CHU de Bordeaux Pessac France

4. Laboratoire INSERM U1035 Bordeaux University Bordeaux France

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jdv.17153

Reference10 articles.

1. N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma

2. Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening

3. Loss‐of‐function mutation in DSG1 underlies focal palmoplantar keratoderma

4. Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes

5. Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

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