Table 3.
Clinical symptoms identified in the patients presenting with osteopoikilosis.
| Patient IV:15 | Patient IV:17 | Patient III:13 | Patient III:10 | Patient IV:8 | |
|---|---|---|---|---|---|
| (female; 26 years) | (female; 24 years) | (male; 60 years) | (female; 54 years) | (male; 19 years) | |
| EXT1 mutation status | p.A578T | p.A578T | p.A578T | - | - |
| Painful hands and feet | + | + | + | + | + |
| Dermatofibrosis | - | - | - | + | - |
| Additional skin changes | - | - | Vitiligo | - | - |
| Other symptoms/disorders | TOF, Ovarian cyst | Sinus cyst | DM2 | - | - |
| Laboratory tests (Ca, P, AP, ACP) | NE | NE | NE | Normal | NE |
TOF - tetralogy of Fallot; DM2 - diabetes mellitus type 2; NE - not examined; Ca - calcium; P - phosphate; AP - alkaline phosphatase; ACP - acid phosphatase