The Spectrum of Epidermolysis Bullosa in KwaZulu‐Natal, South Africa Article Swipe
Antoinette Chateau
,
Thirona Naicker
,
Cassandra Bruce‐Brand
,
J Schneider
,
Colleen Aldous
,
Ncoza C. Dlova
,
Hui‐Ching Cheng
,
P. W. Lin
,
Hsin‐Yu Huang
,
Chao‐Kai Hsu
,
John A. McGrath
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1111/ijd.17843
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1111/ijd.17843
Background Epidermolysis bullosa (EB) is a rare, heterogeneous genodermatosis characterized by skin fragility due to inherited defects in genes encoding proteins that maintain epidermal–dermal integrity. The severity and complications of EB vary by subtype, and no cure currently exists. The epidemiology is unknown in South Africa. Methods This prospective observational study in KwaZulu‐Natal correlated African Zulu EB patients' phenotypic features with genotypic and histological findings. Whole‐exome sequencing, electron microscopy, and immunofluorescence mapping were used to identify EB subtypes. Results Fourteen of the 15 patients recruited initially were confirmed to have EB, while one was excluded due to poor clinicopathological‐genetic correlation. Junctional EB (JEB) was identified in 11 patients, with 10 cases linked to a recurrent homozygous pathogenic variant in LAMB3 , causing severe JEB, and one to ITGA3 with an unusual variant of interstitial lung disease, nephrotic syndrome, and EB (ILNEB). Two patients had autosomal dominant EB simplex, both with heterozygous KRT14 variants, and one had dominant dystrophic EB associated with a heterozygous COL7A1 variant. Eleven patients presented during the neonatal period, with a mean survival of four weeks, highlighting a high mortality rate, especially in the severe JEB cases. The cohort exhibited a balanced sex distribution, with no clear cases of consanguinity observed. Conclusion JEB, with a recurrent pathogenic variant in LAMB3 , emerged as the predominant subtype among African Zulu patients, underscoring the critical need for early diagnosis and tailored management strategies in resource‐limited settings. Integrating clinicopathological and genetic data is essential for accurate diagnosis and prognosis, emphasizing the importance of advanced diagnostic tools in improving outcomes for EB patients in South Africa.
Related Topics
Concepts
Genodermatosis
Epidermolysis bullosa simplex
Epidermolysis bullosa
Medicine
Consanguinity
Compound heterozygosity
Junctional epidermolysis bullosa (veterinary medicine)
Dermatology
Cohort
Pathology
Internal medicine
Pediatrics
Phenotype
Genetics
Gene
Biology
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1111/ijd.17843
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/ijd.17843
- OA Status
- hybrid
- References
- 18
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4410418398
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4410418398Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1111/ijd.17843Digital Object Identifier
- Title
-
The Spectrum of Epidermolysis Bullosa in KwaZulu‐Natal, South AfricaWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2025Year of publication
- Publication date
-
2025-05-14Full publication date if available
- Authors
-
Antoinette Chateau, Thirona Naicker, Cassandra Bruce‐Brand, J Schneider, Colleen Aldous, Ncoza C. Dlova, Hui‐Ching Cheng, P. W. Lin, Hsin‐Yu Huang, Chao‐Kai Hsu, John A. McGrathList of authors in order
- Landing page
-
https://doi.org/10.1111/ijd.17843Publisher landing page
- PDF URL
-
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/ijd.17843Direct link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
- OA URL
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/ijd.17843Direct OA link when available
- Concepts
-
Genodermatosis, Epidermolysis bullosa simplex, Epidermolysis bullosa, Medicine, Consanguinity, Compound heterozygosity, Junctional epidermolysis bullosa (veterinary medicine), Dermatology, Cohort, Pathology, Internal medicine, Pediatrics, Phenotype, Genetics, Gene, BiologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
0Total citation count in OpenAlex
- References (count)
-
18Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| publication_date | 2025-05-14 |
| publication_year | 2025 |
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