| Patient VI-3 | Patient VI-4 | Patient VI-5 | Patient V-15 | Patient VI-10 | ISH | JHF |
---|---|---|---|---|---|---|---|
Papular skin lesions | + | + | + | + | + | + | + |
Thickened skin | - | - | - | - | - | + | - |
Gingival hyperplasia | + | + | + | + | + | + | + |
Perianal nodules | + | + | + | + | + | + | + |
large nodules/tumors | + | + | + | + | + | - | + |
Hyperpigmented plaques Joints and bones | - | - | - | - | - | + | - |
joint contractures | + | + | + | + | + | + | + |
Osteoporosis/osteopenia | + | + | + | + | + | + | + |
Osteolysis | + | + | + | + | + | + | + |
Persistent diarrhea | + | - | - | Â | - | + | - |
Recurrent infections | - | - | - | - | - | + | - |
Visceral involvement | - | - | - | - | - | + | - |
Short stature | - | - | - | - | - | + | - |
Prolonged survival | + | + | + | + | + | - | + |