Table 1.
Clinical characteristics and genetic causes of 134 index patients with PK
| Genetic causes of 134 index patients with PK | |||||
|---|---|---|---|---|---|
| MVK (39*) | PMVK (9) | MVD (62*) | FDPS (4) | Unknown (21) | |
| Sex | |||||
| Male | 27 | 9 | 38 | 1 | 17 |
| Female | 12 | 0 | 24 | 3 | 4 |
| Number of lesions | |||||
| 0–10 | 4 | 4 | 0 | 0 | 6 |
| 10–100 | 20 | 5 | 13 | 0 | 5 |
| 100–500 | 5 | 0 | 39 | 0 | 5 |
| >500† | 10 | 0 | 10 | 4 | 5 |
| Diameter of lesions | |||||
| Minimum | 2 mm | 5 mm | 1 mm | 1 mm | 1 mm |
| Maximum | 20 cm | 5 cm | 2 cm | 1 cm | 2 cm |
| Age of onset | |||||
| At birth | 0 | 0 | 0 | 0 | 3 |
| 0–20 | 23 | 4 | 20 | 1 | 0 |
| 20–40 | 12 | 3 | 28 | 1 | 9 |
| 40–60 | 3 | 1 | 12 | 2 | 5 |
| >60 | 1 | 1 | 2 | 0 | 4 |
| Variants of PK | |||||
| DSAP/DSP | 26 | 0 | 56 | 4 | 10 |
| SFP | 0 | 0 | 6 | 0 | 0 |
| PM | 23 | 9 | 0 | 0 | 6 |
| HPM | 13 | 3 | 1 | 0 | 0 |
| Giant plaque of PPt | 19 | 0 | 0 | 0 | 0 |
| Genital PK (localized) | 0 | 4 | 0 | 0 | 0 |
| Porokeratoma | 0 | 5 | 0 | 0 | 0 |
| LP | 1 | 1 | 3 | 0 | 5 |
| Comorbidity | |||||
| Psoriasis vulgaris | 4 | 0 | 2 | 0 | 0 |
*
One PK patient (proband of family-28, female), who has both the mutation c. 235G>A (MVK) and the mutation c. 746T>C (MVD), was included in both MVK and MVD groups.
†
The number of lesions is more than 500.
DSAP, disseminated superficial actinic porokeratosis; DSP, disseminated superficial porokeratosis; HPM, hyperkeratotic porokeratosis, LP, linear porokeratosis, PK, porokeratosis; PM, porokeratosis of Mibelli, PPt, porokeratosis ptychotropica; SFP, solar facial porokeratosis.