A heterozygous mutation in ITGB4 causing a mild phenotype of junctional epidermolysis bullosa.

Zhongtao Li, Lin Wang, Sheng Wang

Pediatric dermatology 2023 Jul-Aug

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Mutations in ITGB4 are known to cause autosomal recessive junctional epidermolysis bullosa (JEB), which is manifested by severe blistering and granulation tissue, usually complicating pyloric atresia and even leading to death. ITGB4-associated autosomal dominant epidermolysis bullosa has rarely been documented. Herein, we identified a heterozygous pathogenic variant (c.433G>T; p.Asp145Tyr) in ITGB4 causing a mild phenotype of JEB in a Chinese family. © 2023 Wiley Periodicals LLC.

Citation

Zhongtao Li, Lin Wang, Sheng Wang. A heterozygous mutation in ITGB4 causing a mild phenotype of junctional epidermolysis bullosa. Pediatric dermatology. 2023 Jul-Aug;40(4):740-742