Epidermolysis bullosa with pyloric atresia associated with compound heterozygous ITGB4 pathogenic variants: Minimal skin involvement but severe mucocutaneous disease
| Autor: | Yi Zhen Ng, Lynette Wei Yi Wee, Ene-Choo Tan, Cristelle Chow, Ellen Birgitte Lane, Siew-Peng Lee, Hwee-Woon Lim, Te Lu Yap, Priya Bishnoi, John E.A. Common, Christina Ong, Mei Yi Low, Lian Derrick, Yee Hui Mok, Mark Jean Aan Koh, Declan P. Lunny |
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| Rok vydání: | 2021 |
| Předmět: |
Pathology
medicine.medical_specialty integumentary system business.industry Mucocutaneous zone Dermatology medicine.disease Compound heterozygosity Junctional epidermolysis bullosa (medicine) Frameshift mutation Pathogenesis 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Intestinal mucosa 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health medicine Enteropathy Epidermolysis bullosa business |
| Zdroj: | Pediatric Dermatology. 38:908-912 |
| ISSN: | 1525-1470 0736-8046 |
| Popis: | We report a case of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) with minimal skin involvement but severe protein-losing enteropathy and airway involvement. Genetic analysis revealed heterozygous mutations in the ITGB4 gene encoding integrin β4 protein. Parental testing confirmed inheritance of frameshift variant (c.794dupC) as maternal and splice site variant (c.1608C>T/p.Cys536Cys) as paternal. Immunofluorescence mapping of her skin revealed a subepidermal blister with decreased and frayed integrin β4 at both the floor and the roof of the blister, while the intestinal mucosa showed complete absence of integrin β4. We review the literature and discuss the differential expression of integrins in the skin and gastrointestinal tract, as well as the role of chronic inflammation in the pathogenesis of EB. |
| Databáze: | OpenAIRE |
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