Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia

Mohammed Al Towijry; Abeer Mohammed M Alanazi; Fatma Eldesoky; Yousef H Alharthi; Ibrahim Abdullah S Albalawi

doi:10.7759/cureus.43206

Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia

Cureus. 2023 Aug 9;15(8):e43206. doi: 10.7759/cureus.43206. eCollection 2023 Aug.

Authors

Mohammed Al Towijry¹, Abeer Mohammed M Alanazi¹, Fatma Eldesoky², Yousef H Alharthi², Ibrahim Abdullah S Albalawi²

Affiliations

¹ Department of Pediatrics, King Salman Armed Forces Hospital, Tabuk, SAU.
² Department of Dermatology, King Salman Armed Forces Hospital, Tabuk, SAU.

Abstract

We report a case of a 3-year-old Saudi female patient as the first case reported in Saudi Arabia who is homozygous for dystonin c.3370C>T, p.(Gln1124*). At the age of 3 months, the girl started to develop numerous vesicles and bullae involving the dorsum of the feet that were not on a pressure site, with remission and aggravation, but she had no mucosal lesions or nail affection. The patient was diagnosed with epidermolysis bullosa simplex.

Keywords: child; epidermolysis bullosa simplex; gene mutation; homozygous; skin disease.

Publication types

Case Reports