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COL7A1 G2287R mutation with two clinical phenotypes in the same family: Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa
Yuan-Chen Chao,
Yuan-Chen Chao
Department of Dermatology, Taipei City Hospital, Taipei, Taiwan
Search for more papers by this author Jin-Bon Hong,
Jin-Bon Hong
Department of Dermatology, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan
Search for more papers by this author Connie Liu,
Connie Liu
Department of Dermatology, Taipei City Hospital, Taipei, Taiwan
Search for more papers by this author Meng-Sui Lee,
Corresponding Author
Meng-Sui Lee
Department of Dermatology, Taipei City Hospital, Taipei, Taiwan
Faculty of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan
Correspondence
Meng-Sui Lee, Department of Dermatology, Taipei City Hospital, No. 33, Sec. 2, Zhonghua Road, Taipei 100, Taiwan.
Email: [email protected]
Search for more papers by this author Ruey-Yi Lin,
Ruey-Yi Lin
Department of Dermatology, Taipei City Hospital, Taipei, Taiwan
Search for more papers by this author
Yuan-Chen Chao,
Yuan-Chen Chao
Department of Dermatology, Taipei City Hospital, Taipei, Taiwan
Search for more papers by this author Jin-Bon Hong,
Jin-Bon Hong
Department of Dermatology, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan
Search for more papers by this author Connie Liu,
Connie Liu
Department of Dermatology, Taipei City Hospital, Taipei, Taiwan
Search for more papers by this author Meng-Sui Lee,
Corresponding Author
Meng-Sui Lee
Department of Dermatology, Taipei City Hospital, Taipei, Taiwan
Faculty of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan
Correspondence
Meng-Sui Lee, Department of Dermatology, Taipei City Hospital, No. 33, Sec. 2, Zhonghua Road, Taipei 100, Taiwan.
Email: [email protected]
Search for more papers by this author Ruey-Yi Lin,
Ruey-Yi Lin
Department of Dermatology, Taipei City Hospital, Taipei, Taiwan
Search for more papers by this author
First published: 13 May 2022
No abstract is available for this article.
REFERENCES
- 1Has C, Bauer J, Bodemer C, et al. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol. 2020; 183: 614–27.
- 2Tang ZL, Lin ZM, Wang HJ, Chen Q, Xu XM, Ge HF, et al. Four novel and two recurrent glycine substitution mutations in the COL7A1 gene in Chinese patients with epidermolysis bullosa pruriginosa. Clin Exp Dermatol. 2013; 38: 197–9.
- 3Shi BJ, Zhu XJ, Liu Y, Hao J, Yan GF, Wang SP, et al. Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene. Int J Dermatol. 2015; 54: 438–42.
- 4Murase K, Kanoh H, Ishii N, Hashimoto T, Nakano H, Sawamura D, et al. Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa within the same family: two phenotypes associated with a COl7A1 mutation. Acta Derm Venereol. 2011; 91: 730–1.
- 5Vivehanantha S, Carr RA, McGrath JA, Taibjee SM, Madhogaria S, Ilchyshyn A. Epidermolysis bullosa pruriginosa: A case with prominent histopathologic inflammation. JAMA Dermatol. 2013; 149: 727–31.
