Clinical features of 32 subjects from three familial and four sporadic BHD cases
| Family | Subject | Current age | Cutaneous lesions | Renal lesions | Colorectal lesions | Pneumothorax | Other lesions | Mutation |
|---|---|---|---|---|---|---|---|---|
| Bold letters = age at death; x = <10 lesions; xx = 10–100 lesions; xxx = >100 lesions; NA = not available. | ||||||||
| F518 | I.1 | 74 | x | NA | NA | Multiple | NA | |
| I.2 | 78 | None | NA | NA | None | NA | ||
| II.2 | 69 | None | None | None | None | Liver cancer (alcoholic cirrhosis), pleurisy | NA | |
| II.4 | 54 | xx | NA | NA | None | Gastrointestinal cancer (site uncertain) | NA | |
| II.5 | 77 | xx | None | 8 colorectal polyps (tubulovillous/tubular) | Three | c.1733delC | ||
| II.7 | 75 | None | None | NA | None | Gastrointestinal cancer (site uncertain) | NA | |
| III.1 | 45 | None | None | None | None | None | ||
| III.2 | 66 | None | NA | NA | None | c.1733delC | ||
| III.4 | 64 | xx | None | None | Multiple | Pleurisy | c.1733delC | |
| III.5 | 47 | None | None | NA | Multiple | None | ||
| III.6 | 53 | None | NA | NA | None | c.1733delC | ||
| III.7 | 40 | None | NA | NA | None | c.1733delC | ||
| III.8 | 68 | xx | NA | None | None | c.1733delC | ||
| III.9 | 71 | xxx | 2 renal cysts | Colorectal polyps (histology NA) | Multiple | c.1733delC | ||
| IV.1 | 37 | None | None | NA | None | c.1733delC | ||
| IV.2 | 45 | x | NA | 1 colon polyp (tubular) | None | Sigmoid diverticulosis | c.1733delC | |
| IV.3 | 46 | None | NA | NA | None | None | ||
| IV.4 | 41 | xx | None | 4 colorectal polyps (villous/tubular) | None | c.1733delC | ||
| IV.5 | 37 | x | None | 1 colon polyp (tubulovillous) | Multiple | c.1733delC | ||
| IV.6 | 47 | xx | None | Colorectal polyps (tubular) | Multiple | Tonsil squamous cell cancer | c.1733delC | |
| F598 | I.1 | ? | x | NA | NA | None | Lung carcinoma | NA |
| II.1 | 65 | xx | None | NA | None | Nodular cutaneous elastoidosis | c.1733delC | |
| II.2 | 41 | None | NA | NA | None | c.1733delC | ||
| II.3 | 52 | xxx | None | NA | None | Leg superficial spreading malignant melanoma | c.1733delC | |
| II.4 | 65 | xxx | Clear cell RCC | NA | One | Cutaneous and parotid metastases | c.1733delC | |
| III.1 | 37 | xxx | None | NA | None | Retrobulbar neuropathy | c.1733delC | |
| S002 | I.1 | 66 | xxx | None | NA | Multiple | c.1733insC | |
| II.1 | 39 | x | None | NA | Three | c.1733insC | ||
| Sporadic cases | ||||||||
| S003 | 49 | xx | None | NA | None | c.1733insC | ||
| S006 | 61 | xx | None | Colon polyps (histology NA) | One | Sarcoma breast | None | |
| F641 | 60 | xx | Unclassified RCC | NA | None | Lung metastasis | c.1733delC | |
| F676 | 63 | xxx | None | NA | None | Meningioma; vulvar epitheliomas; finger histiocytofibroma; Hashimoto thyroiditis | None | |