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 |