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Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia
Mohammed Al Towijry1, Abeer Mohammed M Alanazi1, Fatma Eldesoky2
1Department of Pediatrics, 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.
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