Table 2.
Clinical data of the 30 subjects who carry pathogenic FLCN mutation
| Patient* | Sex | Age† | No. and location of PTX episodes‡ | Skin lesion¶ | Renal disease | Family history of PTX | Family history of skin lesion | Family history of renal disease | Medical history** | Smoking history |
| JBR1(B1) | F | 23(30) | L(1) R(1) | None | None | Yes | No | No | Endometriosis, PCOS, ovarian cyst, lipoma | Never |
| JBR2(B2) | F | 16(38) | L(3) R(3) | None | None | Yes | No | No | Myoma of the uterus, | Ex-smoker 2.2 pack-years |
| JBR3(B3) | F | 25(40) | L(3)R(2) | None | None | Yes | No | Yes | None | Never |
| JBR4 | F | 49(80) | R1 | None | None | No | No | No | None | Never |
| JBR5(B6) | F | 35(37) | L(1)R(1) | None | None | Yes | No | No | Myoma of the uterus | Never |
| JBR6(B7) | F | 28(38) | L(2)R(1) | None | None | Yes | No | Yes | Vocal cord nodules, myoma of the uterus, carcinoma of the thyroid gland | Ex-smoker 0.6 pack-years |
| JBR7 | F | 52(53) | L(3) | None | None | Yes | No | No | Breast carcinoma | Never |
| JBR8 | M | 33(33) | R(1) | None | None | No | No | No | Non-functioning adenoma of adrenal gland | Never |
| JBR9 | F | (31) | Never (lung cyst) | None | None | No | No | No | None | Never |
| JBR10 | F | 78(85) | L(1)R(1) | None | None | No | No | No | Colon cancer | Never |
| JBR11 | M | 35(38) | R(2) | Nose | None | Yes | No | No | None | Never |
| JBR12 | F | 57(68) | L(1)R(2) | Face, neck | Hydronephrosis (L) | No | No | No | Endometriosis | Never |
| JBR13 | F | 27(32) | L(2)R(2) | None | None | Yes | Yes | No | None | Never |
| JBR14 | F | 27(31) | L(1)R(6) | None | None | No | No | No | None | Never |
| JBR15 | F | 38(43) | L(1)R(2) | None | AML(R) | No | No | No | None | Ex-smoker 2.7 pack-years |
| JBR16 | F | 26(54) | L(4) | FFs | None | Yes | Yes | No | None | Never |
| JBR17 | M | 34(34) | L(5)R(2) | None | None | No | No | No | None | Ex-smoker 18.8 pack-years |
| JBR18 | F | 16(46) | L(4)R(4) | None | None | Yes | No | No | None | Never |
| JBR19 | F | unknown(53) | no details (2) | None | Cancer | Yes | No | No | None | Never |
| JBR20 | F | 26(38) | L(2)R(2) | None | None | No | No | No | None | Ex-smoker 7.5 pack-years |
| JBR21 | F | 20(34) | L(1)R(3) | Chest | None | Yes | No | No | Endometriosis | Never |
| JBR22 | F | 41(59) | R(1) | Face, neck | None | Yes | No | No | None | Never |
| JBR23§ | M | 25(40) | L(1)R(2) | None | None | Yes | No | No | None | Never |
| JBR24 | F | 52(52) | L(1) | None | None | No | No | No | None | Never |
| JBR25 | M | 29(32) | L(1)R(3) | None | None | Yes | No | No | None | Never |
| JBR26 | F | 21(23) | L(2)R(2) | None | None | No | No | No | None | Never |
| JBR27 | F | 65(66) | R(2) | None | None | Yes | No | No | None | Never |
| JBR28 | F | 24(44) | L(2)R(1) | None | None | Yes | No | No | None | Never |
| JBR29 | F | 51(53) | L(1)R(1) | Neck | None | Yes | Yes | No | None | Ex-smoker 4.7 pack-years |
| JBR30 | M | 29(66) | L(3)R(3) | Seborrhoeic keratosis | None | Yes | No | No | Gallbladder polyp | Never |
JBR16 had FFs on the nose and JBR30 had seborrhoeic keratosis on the face and the neck.
Family history was obtained by an interview with the patient. FLCN mutation status of the family member was undetermined since they did not wish the genetic testing.
The description in parentheses indicates the correspondence of the patient whose clinical data were already reported in the previous study.10
Age (years) at the first PTX is shown. Age at the enrolment in this study is indicated in parenthesis.
The number of pneumothorax episode in parentheses.
The detailed clinical pictures of this case are described elsewhere.18
The locations of skin papules observed are indicated if the patient has no skin biopsy.
Only medical histories considered to be relevant for BHDS are listed.
FFs, fibrofolliculomas; L, left sided; PCOS, polycystic ovarian syndrome; PTX, pneumothorax; R, right sided.