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Article

Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.

International journal of dermatology - 1 Apr 2015

Shi Bing-Jun, Zhu Xiao-Juan, Liu Yi, Hao Jin, Yan Guo-Fu, Wang Su-Ping, Wang Xiu-Yong, Diao Qing-Chun

Abstract excerpt

BACKGROUND: Bullous dermolysis of the newborn (BDN), an extremely rare clinical type of dystrophic epidermolysis bullosa (DEB), is characterized by subepidermal blistering at birth or shortly thereafter, followed by rapid improvement with minimal scarring or pigmentation. A total of 38 cases have been reported in the literature since the disease was initially described in 1985, but only 14 mutations in COL7A1,...

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Identifiers

PMID: 25800346
DOI: 10.1111/ijd.12704

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.PMID 25800346Read ↗

Transient bullous dermolysis of the newborn in three generations.Semantic proximity Read ↗

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Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.Semantic proximity Read ↗

Five Novel COL7A1 Gene Mutations in Three Chinese Patients with Recessive Dystrophic Epidermolysis Bullosa.Semantic proximity Read ↗

Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa within the same family: two phenotypes associated with a COL7A1 mutation.Semantic proximity Read ↗

A Novel COL7A1 Mutation in a Chinese Family with Epidermolysis Bullosa Pruriginosa.Semantic proximity Read ↗

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Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene.Semantic proximity Read ↗

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