29 June 2025
: Case report 
Differential Diagnosis and a Novel Mutation in Birt-Hogg-Dubé Syndrome: Insights from 2 Cases
Challenging differential diagnosis, Unusual setting of medical care, Rare disease
Lingfang Tu ACE 1, Yuan Ye BEG 1, Jianya Zhou CF 1, Zhijie Pan AD 1*DOI: 10.12659/AJCR.947530
Am J Case Rep 2025; 26:e947530
Figure 1 Physical examination revealed dermatological lesionsMultiple dome-shaped papules were revealed on the nose, cheeks (A), neck (B), auricles (C), and the mucosal surface of the lower lip (D) of a 57-year-old Chinese woman. Dome-shaped papules were identified on the face (E) and neck (F) of a 58-year-old Chinese woman. (White arrow indicates the skin abnormalities).