{Reference Type}: Case Reports
{Title}: Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia.
{Author}: Al Towijry M;Alanazi AMM;Eldesoky F;Alharthi YH;Albalawi IAS;
{Journal}: Cureus
{Volume}: 15
{Issue}: 8
{Year}: 2023 Aug
暂无{DOI}: 10.7759/cureus.43206
{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.