Oral and acral pigmented macules in Peutz-Jeghers syndrome

Abstract

The differential diagnosis for oral and acral pigmented macules is important because it includes Peutz-Jeghers syndrome (PJS), which is associated with important systemic findings. We report a patient with typical PJS, and three patients with related diseases, LaugierHuntziker-Baran syndrome (LHBS) and McCune-Albright syndrome (MAS), and highlight the key dermatological findings for the differential diagnosis. Notable findings included the mucocutaneous pigmented macules exhibiting a freckle-like shape in PJS and a lenticular shape in LHBS. Pigmented nail streaks were uncommon in PJS, but common in LHBS. On dermoscopic examination for acral macules, a parallel ridge pattern was observed in both PJS and LHBS. In MAS, oral mucosal pigmentation is uncommon, but occasionally develops with a freckle-like shape during childhood. These clinical features may aid in the diagnosis of PJS among patients who present with oral and acral pigmented macules.