Dermatological, renal, gastrointestinal, and molecular findings in patients with Birt-Hogg-Dube syndrome and at risk relatives
| Dermatologic findings | Molecular studies | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| FF/TD | ST | OP | L | Renal findings | Colonoscopy | BHD | PTEN | PTCH | CTNNB1 | ||
| *FF, fibrofolliculoma; TD, trichodiscoma; ST, skin tags; OP, oral papules; L, lipomas; BHD, Birt-Hogg-Dube syndrome; NA, data not available; CT, computed tomography; US, ultrasound; L, left; ND, not done; CA, cancer. | |||||||||||
| I:1 | 80/F | + | NA | NA | NA | No studies or history | Not done | + | ND | ND | ND |
| I:2 | 80/F | + | NA | NA | NA | No studies or history | Not done | + | ND | ND | ND |
| II:1 | 78/F | >500 | X | − | X | Renal adenocarcinoma | No polyps or CA | + | − | − | − |
| S/P L nephrectomy | |||||||||||
| II:2 | 80/F | + | NA | NA | NA | No studies or history | Not done | + | ND | ND | ND |
| II:3 | 96/M | >100 | − | − | − | No CT or US | No polyps or CA | + | ND | ND | ND |
| II:4 | 86/F | + | NA | NA | NA | No studies or history | Not done | + | ND | ND | ND |
| II:5 | 91/M | + | NA | NA | NA | No studies or history | Not done | + | ND | ND | ND |
| III:1 | 45/F | >500 | − | − | − | No CT or US | No polyps or CA | + | − | − | − |
| III:2 | 39/F | >500 | X | X | − | No CT or US | Not done | + | − | − | − |
| III:3 | 53/M | − | − | − | − | No CT or US | No polyps or CA | − | ND | ND | ND |
| III:4 | 53/M | − | − | − | − | No CT or US | Not done | − | ND | ND | ND |
| III:5 | 61/M | − | X | − | − | No CT or US | No polyps or CA | − | ND | ND | ND |
| III:6 | 57/F | >500 | X | − | X | CT of abdomen normal | No polyps or CA | + | − | − | − |
| III:7 | 62/F | >100 | X | − | X | CT of abdomen normal | No polyps or CA | + | − | − | − |
| III:8 | 60/F | − | X | − | − | No CT or US | No polyps or CA | − | ND | ND | ND |
| III:9 | 61/M | >500 | X | X | − | Chromophobe renal CA | No polyps | + | − | − | − |
| S/P L nephrectomy | |||||||||||
| III:10 | 64/M | − | − | − | − | CT of abdomen normal | One polyp, no CA | − | ND | ND | ND |
| III:11 | 53/F | >500 | X | − | − | No CT or US | No polyps or CA | + | ND | ND | ND |
| III:12 | 58/M | >500 | X | − | − | No CT or US | No polyps or CA | + | ND | ND | ND |
| III:13 | 56/F | >500 | X | − | − | No CT or US | No polyps or CA | + | ND | ND | ND |
| III:14 | 72/F | − | X | − | − | No CT or US | No polyps or CA | − | ND | ND | ND |
| III:15 | 48/F | − | − | − | − | No CT or US | No polyps or CA | − | ND | ND | ND |
| III:16 | 80/F | − | X | − | − | No CT or US | No polyps or CA | − | ND | ND | ND |
| III:17 | 71/F | >100 | X | − | X | No CT or US | No polyps or CA | + | ND | ND | ND |
| IV:1 | 17/M | − | − | − | − | No CT or US | Not done | − | ND | ND | ND |
| IV:2 | 23/F | − | − | − | − | No CT or US | Not done | − | ND | ND | ND |
| IV:3 | 19/F | − | − | − | − | No CT or US | Not done | − | ND | ND | ND |
| IV:4 | 41/M | >500 | X | − | − | CT of abdomen normal | No polyps or CA | + | − | − | − |
| IV:5 | 41/F | >500 | − | − | − | No CTor US | Not done | + | − | − | − |
| IV:6 | 35/M | − | − | − | − | No CTor US | Not done | − | ND | ND | ND |
| IV:7 | 35/F | − | X | − | − | No CTor US | Not done | − | ND | ND | ND |
| IV:8 | 33/F | − | − | − | − | No CTor US | Not done | − | ND | ND | ND |
| IV:9 | 52/F | − | − | − | − | No CTor US | One polyp, no CA | − | ND | ND | ND |