TABLE 2. Summary of Clinical Findings.
Summary of clinical findings in our patient dataset.
| TUMOR LOCATION | MARKERS OF SEVERITY | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
| ||||||||||||
| Pt No. | Mutation | M/F | Onset (Yrs) |
Tumor Type |
Clinical Diag. |
Scalp | Trunk | Pubic | Ear | Wig Use |
Scalp Removed |
Painful Tumor |
| A-1 | 2460 | F | 25 | Cy | FC | + | + | + | + | + | + | + |
| A-2 | 2460 | F | 12 | Cy,Es, Te |
BSS | + | + | + | + | + | + | + |
| A-3 | 2460 | F | 15 | Cy, Es, Te |
BSS | + | + | + | + | + | + | + |
| A-4 | 2460 | F | 9 | Cy,Es, Te |
BSS | + | + | + | + | − | − | + |
| A-5 | 2460 | F | 8 | Cy | FC | + | + | − | − | − | − | + |
| A-6 | 2460 | F | 15 | Cy | FC | + | + | − | − | − | − | − |
| A-7 | 2460 | F | 25 | Cy | FC | + | − | − | − | − | − | + |
| A-8 | 2460 | F | 12 | Cy | FC | + | + | − | − | − | − | − |
| A-9 | 2460 | F | 11 | Cy, Te, Mi |
BSS | + | + | + | + | − | − | + |
| A-10 | 2460 | F | 13 | Te | MFT | − | − | − | − | − | − | − |
| A-11 | 2460 | F | 12 | Te | MFT | − | + | − | − | − | − | − |
| A-12 | 2460 | M | 15 | Te | MFT | − | − | − | − | − | − | − |
| A-13 | 2460 | M | 12 | Cy, Es | BSS | + | + | + | − | − | − | + |
| A-14 | 2460 | M | 30 | Cy,Es, Mi |
BSS | + | − | − | − | − | − | + |
| A-15 | 2460 | M | 15 | Cy,Te | BSS | + | + | − | − | − | − | − |
| A-16 | 2460 | M | NR | Cy,Te | BSS | − | − | − | − | − | − | − |
| A-17 | 2460 | M | 15 | Cy | FC | + | + | − | − | − | − | NR |
| B-18 | 2469 | F | 18 | Cy | FC | + | + | + | − | + | + | + |
| B-19 | 2469 | F | 18 | Cy, Es | FC | + | + | + | − | + | + | + |
| B-20 | 2469 | F | 23 | Cy | FC | + | + | + | + | + | − | + |
| B-21 | 2469 | M | NR | Cy | FC | + | + | + | − | NR | + | NR |
| B-22 | 2469 | M | 17 | Cy | FC | + | + | − | − | − | − | − |
| B-23 | 2469 | M | 16 | Te | MFT | − | − | − | − | − | − | − |
| B-24 | 2469 | M | NR | Cy,Te | FC | + | − | − | − | − | − | NR |
| B-25 | 2469 | M | 18 | Cy | FC | + | + | + | + | − | − | − |
| B-26 | 2469 | M | 15 | Cy | FC | + | − | − | − | − | − | − |
| 12 M 14 F |
Avg. 16 yrs |
Total % | 81% | 69% | 42% | 27% | 24% | 23% | 52% | |||
Abbreviations: Cy- Cylindroma, Es - Eccrine Spiradenoma, Te- Trichoepithilioma, Mi - Milia, + Present, − Absent, 2460 - Family A (c.2460 del C), 2469 - Family B (c.2469+1 G>A), NR - Not Recorded