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- Title
Epidermolysis bullosa dystrophica inversa: case report of a novel genetic mutation, involving a rare genodermatoses.
- Authors
Chakraborty, Abhijit; Agarwal, Rashmi; Preethi, Pellakuru; Chandrashekar, B
- Abstract
This article discusses a case report of a 9-year-old male patient with a rare genetic mutation called epidermolysis bullosa dystrophica inversa (EBDI). The patient presented with oral erosions and symmetrical erosive lesions on various parts of the body. Clinical examination and genetic testing confirmed the diagnosis of EBDI. The article emphasizes the importance of genetic testing in precise diagnosis and understanding the genotype-phenotype correlations in this rare subtype of epidermolysis bullosa. Further research is needed to develop preventive strategies for this condition, which can significantly impact the patient's quality of life.
- Subjects
GENETIC mutation; GENETIC testing; EPIDERMOLYSIS bullosa; TOOTH erosion
- Publication
Indian Dermatology Online Journal, 2023, Vol 14, Issue 6, p884
- ISSN
2229-5178
- Publication type
Article
- DOI
10.4103/idoj.idoj_699_22